#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
AGRN	375790	broad.mit.edu	37	1	984698	984698	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:984698C>T	ENST00000379370.2	+	25	4431	c.4381C>T	c.(4381-4383)Cgg>Tgg	p.R1461W		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1461	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGAGCTGTCCCGGCACTGGCG	0.687																																						uc001ack.1		NaN																	0				central_nervous_system(2)|breast(1)	3						c.(4381-4383)CGG>TGG		agrin precursor							26.0	31.0	29.0					1																	984698		2196	4298	6494	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:984698C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4381C>T	1.37:g.984698C>T	ENSP00000368678:p.Arg1461Trp						p.R1461W	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	25	4431	+	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)	1461			Laminin G-like 1.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.4381C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.620472	0.46736	.	.	ENSG00000188157	ENST00000379370	D	0.82711	-1.64	4.37	1.07	0.20283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	U	0.000007	D	0.89894	0.6847	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88249	0.2915	10	0.87932	D	0	-24.567	7.98	0.30177	0.2784:0.6412:0.0:0.0804	.	1461	O00468	AGRIN_HUMAN	W	1461	ENSP00000368678:R1461W	ENSP00000368678:R1461W	R	+	1	2	AGRN	974561	0.496000	0.26059	0.816000	0.32577	0.003000	0.03518	1.160000	0.31761	0.375000	0.24679	-0.359000	0.07587	CGG		0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576		15	24	0	0	0	1	0	15	24		
MXRA8	54587	broad.mit.edu	37	1	1290868	1290868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:1290868G>C	ENST00000309212.6	-	3	368	c.338C>G	c.(337-339)tCg>tGg	p.S113W	MXRA8_ENST00000342753.4_Intron|MXRA8_ENST00000445648.2_Missense_Mutation_p.S113W|MXRA8_ENST00000477278.2_Missense_Mutation_p.S104W	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	113	Ig-like V-type 1.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCGAAGGCCGAGGCCGAGAG	0.796																																						uc001aew.2		NaN																	0					0						c.(337-339)TCG>TGG		matrix-remodelling associated 8 precursor							4.0	4.0	4.0					1																	1290868		1063	2382	3445	SO:0001583	missense	54587					integral to membrane		g.chr1:1290868G>C	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.338C>G	1.37:g.1290868G>C	ENSP00000307887:p.Ser113Trp					MXRA8_uc001aex.3_Missense_Mutation_p.S113W|MXRA8_uc001aey.3_Missense_Mutation_p.S113W|MXRA8_uc010nyl.1_Missense_Mutation_p.S113W|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Missense_Mutation_p.S104W	p.S113W	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	369	-	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	113			Extracellular (Potential).|Ig-like V-type 1.		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.338C>G	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.006217	0.35415	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000445648	T;T	0.68025	-0.3;-0.3	4.03	4.03	0.46877	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.364590	0.26338	N	0.024947	T	0.72653	0.3487	L	0.47716	1.5	0.41510	D	0.98833	D;D;D;D	0.89917	0.988;1.0;0.985;0.988	D;D;D;D	0.77557	0.949;0.99;0.915;0.949	T	0.74306	-0.3708	10	0.72032	D	0.01	-3.7842	7.5071	0.27551	0.0:0.1658:0.6366:0.1976	.	104;113;113;113	B3KTR6;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;MXRA8_HUMAN	W	113;104;113	ENSP00000307887:S113W;ENSP00000399229:S113W	ENSP00000307887:S113W	S	-	2	0	MXRA8	1280731	0.140000	0.22579	0.007000	0.13788	0.005000	0.04900	2.338000	0.43957	1.942000	0.56320	0.313000	0.20887	TCG		0.796	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2		NM_032348		9	5	0	0	0	1	0	9	5		
MEGF6	1953	broad.mit.edu	37	1	3417236	3417236	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:3417236G>A	ENST00000356575.4	-	21	2894	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	MEGF6_ENST00000294599.4_Silent_p.L785L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	890	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCTCACACAGACACAGGCCG	0.657																																					Ovarian(73;978 3658)	uc001akl.2		NaN																	0				large_intestine(1)	1						c.(2668-2670)CTG>TTG		EGF-like-domain, multiple 3 precursor							12.0	19.0	17.0					1																	3417236		2145	4237	6382	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3417236G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2668C>T	1.37:g.3417236G>A						MEGF6_uc001akk.2_Silent_p.L785L	p.L890L	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	21	2895	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	890			EGF-like 15.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.2668C>T	CCDS41237.1																																																																																				0.657	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409		4	7	0	0	0	1	0	4	7		
KCNAB2	8514	broad.mit.edu	37	1	6158568	6158568	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:6158568C>T	ENST00000164247.1	+	16	1602	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	KCNAB2_ENST00000378092.1_Silent_p.S332S|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000341524.1_Silent_p.S346S|KCNAB2_ENST00000378097.1_Silent_p.S346S|KCNAB2_ENST00000378083.3_Silent_p.S394S|KCNAB2_ENST00000352527.1_Silent_p.S332S|KCNAB2_ENST00000602612.1_3'UTR|KCNAB2_ENST00000458166.2_Silent_p.S279S|KCNAB2_ENST00000378087.3_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	346					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCATCTTCCATTATCCACG	0.537																																						uc009vlv.1		NaN																	0					0						c.(1036-1038)TCC>TCT		potassium voltage-gated channel, shaker-related							143.0	135.0	138.0					1																	6158568		2202	4300	6502	SO:0001819	synonymous_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6158568C>T	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.1038C>T	1.37:g.6158568C>T						KCNAB2_uc001alv.1_Silent_p.S346S|KCNAB2_uc001alw.1_Silent_p.S332S|KCNAB2_uc001alx.1_Silent_p.S346S|KCNAB2_uc001aly.1_Silent_p.S394S|KCNAB2_uc009vlw.1_Silent_p.S279S|KCNAB2_uc001alu.2_3'UTR	p.S346S	NM_003636	NP_003627	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	16	1173	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	346					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Silent	SNP	ENST00000164247.1	37	c.1038C>T	CCDS55.1																																																																																				0.537	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3		NM_172130		17	30	0	0	0	1	0	17	30		
LRRC41	10489	broad.mit.edu	37	1	46746887	46746887	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:46746887G>A	ENST00000343304.6	-	5	1951	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	556					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGTCAACACGAATAGAGAGG	0.597																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(1666-1668)CGT>TGT		MUF1 protein							79.0	66.0	71.0					1																	46746887		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46746887G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1666C>T	1.37:g.46746887G>A	ENSP00000343298:p.Arg556Cys					LRRC41_uc010omb.1_Missense_Mutation_p.R556C	p.R556C	NM_006369	NP_006360	Q15345	LRC41_HUMAN			5	1710	-	Acute lymphoblastic leukemia(166;0.155)		556					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1666C>T	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207871	0.79240	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.48836	0.8	5.75	5.75	0.90469	.	0.071893	0.56097	D	0.000025	T	0.47673	0.1458	N	0.19112	0.55	0.45747	D	0.998643	D;D	0.89917	1.0;1.0	P;P	0.62382	0.901;0.858	T	0.42949	-0.9421	10	0.41790	T	0.15	-26.0019	9.7022	0.40194	0.0:0.1229:0.6288:0.2483	.	556;556	Q15345-3;Q15345	.;LRC41_HUMAN	C	556;534	ENSP00000343298:R556C	ENSP00000343298:R556C	R	-	1	0	LRRC41	46519474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.231000	0.51294	2.723000	0.93209	0.650000	0.86243	CGT		0.597	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		34	66	0	0	0	1	0	34	66		
LRRC7	57554	broad.mit.edu	37	1	70504295	70504295	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:70504295G>A	ENST00000035383.5	+	19	2704	c.2674G>A	c.(2674-2676)Gta>Ata	p.V892I	LRRC7_ENST00000310961.5_Missense_Mutation_p.V897I|LRRC7_ENST00000415775.2_Missense_Mutation_p.V176I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	892						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCCAGGCGTACCATGGGA	0.423																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2674-2676)GTA>ATA		leucine rich repeat containing 7							71.0	72.0	72.0					1																	70504295		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504295G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2674G>A	1.37:g.70504295G>A	ENSP00000035383:p.Val892Ile					LRRC7_uc009wbg.2_Missense_Mutation_p.V176I|LRRC7_uc001deq.2_Missense_Mutation_p.V133I	p.V892I	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2704	+			892					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2674G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	2.306	-0.359122	0.05138	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37584	1.19;1.27;2.34	5.92	4.04	0.47022	.	0.556230	0.18495	N	0.139522	T	0.05456	0.0144	N	0.16478	0.41	0.09310	N	1	B;B;B	0.16396	0.017;0.003;0.002	B;B;B	0.09377	0.004;0.002;0.001	T	0.40098	-0.9581	10	0.05833	T	0.94	.	7.4024	0.26971	0.1573:0.1412:0.7015:0.0	.	176;892;892	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	I	897;892;176;715	ENSP00000309245:V897I;ENSP00000035383:V892I;ENSP00000394867:V176I	ENSP00000035383:V892I	V	+	1	0	LRRC7	70276883	0.997000	0.39634	0.347000	0.25668	0.174000	0.22865	3.035000	0.49759	0.828000	0.34709	0.467000	0.42956	GTA		0.423	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		48	82	0	0	0	1	0	48	82		
TTLL7	79739	broad.mit.edu	37	1	84399296	84399296	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:84399296G>A	ENST00000260505.8	-	9	1419	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	348	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTTACCTCCAGAAGCCATGGC	0.373																																						uc001djc.2		NaN																	0				ovary(1)	1						c.(1042-1044)CTG>TTG		tubulin tyrosine ligase-like family, member 7							105.0	106.0	106.0					1																	84399296		2203	4300	6503	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84399296G>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1042C>T	1.37:g.84399296G>A						TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.L348L	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	9	1438	-			348			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.1042C>T	CCDS690.2																																																																																				0.373	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1		NM_024686		67	71	0	0	0	1	0	67	71		
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	T	rs199954954		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:100701061C>T	ENST00000370132.4	-	3	195	c.182G>A	c.(181-183)cGt>cAt	p.R61H	DBT_ENST00000370131.3_Missense_Mutation_p.R61H	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	61					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333																																						uc001dta.2		NaN																	0				pancreas(1)	1						c.(181-183)CGT>CAT		dihydrolipoamide branched chain transacylase		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	69.0	69.0		182	-1.3	0.0	1		69	0,8600		0,0,4300	no	missense	DBT	NM_001918.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	61/483	100701061	1,13005	2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100701061C>T	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.182G>A	1.37:g.100701061C>T	ENSP00000359151:p.Arg61His					DBT_uc010oug.1_Translation_Start_Site	p.R61H	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	3	215	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	61					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.182G>A	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003903	0.07773	2.27E-4	0.0	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.31769	1.48;1.48	5.43	-1.34	0.09143	Single hybrid motif (1);	1.440770	0.03481	N	0.215147	T	0.04634	0.0126	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	10	0.15066	T	0.55	2.9912	13.1355	0.59407	0.0:0.4859:0.0:0.5141	.	61	P11182	ODB2_HUMAN	H	61	ENSP00000359151:R61H;ENSP00000359150:R61H	ENSP00000359150:R61H	R	-	2	0	DBT	100473649	0.000000	0.05858	0.008000	0.14137	0.667000	0.39255	-0.702000	0.05069	-0.156000	0.11079	-0.355000	0.07637	CGT		0.333	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2		NM_001918		8	72	0	0	0	1	0	8	72		
SCNM1	79005	broad.mit.edu	37	1	151141526	151141526	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:151141526G>A	ENST00000368905.4	+	7	769	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	220	Required for interaction with LUC7L2. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTTGACTCTGATGAGGAGGA	0.423																																						uc001ewz.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(658-660)GAT>AAT		sodium channel modifier 1							273.0	225.0	242.0					1																	151141526		2203	4300	6503	SO:0001583	missense	79005				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151141526G>A	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.658G>A	1.37:g.151141526G>A	ENSP00000357901:p.Asp220Asn					SCNM1_uc009wmn.2_RNA	p.D220N	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	770	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		220					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.658G>A	CCDS987.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549838	0.86127	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.74258	2.255	0.46542	D	0.999096	P	0.51537	0.946	P	0.55667	0.781	T	0.67998	-0.5525	9	0.87932	D	0	-14.4876	11.8037	0.52141	0.0841:0.0:0.9159:0.0	.	220	Q9BWG6	SCNM1_HUMAN	N	220;185	.	ENSP00000357898:D185N	D	+	1	0	SCNM1	149408150	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.674000	0.91191	1.479000	0.48272	-0.142000	0.14014	GAT		0.423	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2		NM_024041		52	68	0	0	0	1	0	52	68		
HRNR	388697	broad.mit.edu	37	1	152188366	152188366	+	Silent	SNP	G	G	A	rs371851150		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:152188366G>A	ENST00000368801.2	-	3	5814	c.5739C>T	c.(5737-5739)caC>caT	p.H1913H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1913					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTAGATCCGTGTTGTTCAC	0.557																																						uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(5737-5739)CAC>CAT		hornerin		A		0,4340		0,0,2170	812.0	1176.0	1054.0		5739	-7.8	0.0	1		1054	1,8593		0,1,4296	no	coding-synonymous	HRNR	NM_001009931.1		0,1,6466	AA,AG,GG		0.0116,0.0,0.0077		1913/2851	152188366	1,12933	2170	4297	6467	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188366G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5739C>T	1.37:g.152188366G>A							p.H1913H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5815	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1913			21.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5739C>T	CCDS30859.1																																																																																				0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		65	875	0	0	0	1	0	65	875		
FCRL2	79368	broad.mit.edu	37	1	157739894	157739894	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:157739894G>A	ENST00000361516.3	-	4	405	c.357C>T	c.(355-357)atC>atT	p.I119I	FCRL2_ENST00000392274.3_Silent_p.I119I|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	119	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACCCCCTTCGATGGGCTGGA	0.527																																						uc001fre.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(355-357)ATC>ATT		Fc receptor-like 2 precursor							47.0	48.0	48.0					1																	157739894		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739894G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.357C>T	1.37:g.157739894G>A						FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.I119I|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Silent_p.I119I	p.I119I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	416	-	all_hematologic(112;0.0378)		119			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.357C>T	CCDS1168.1																																																																																				0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2		NM_030764		40	41	0	0	0	1	0	40	41		
SPTA1	6708	broad.mit.edu	37	1	158585162	158585162	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:158585162C>T	ENST00000368147.4	-	48	6812	c.6632G>A	c.(6631-6633)cGt>cAt	p.R2211H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2211					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTTAGTTGACGCTTCATCGC	0.483																																						uc001fst.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6631-6633)CGT>CAT		spectrin, alpha, erythrocytic 1							172.0	166.0	168.0					1																	158585162		1939	4153	6092	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585162C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6632G>A	1.37:g.158585162C>T	ENSP00000357129:p.Arg2211His						p.R2211H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			48	6831	-	all_hematologic(112;0.0378)		2211			Spectrin 21.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6632G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042413	0.55003	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.43294	0.95;0.95	5.65	2.83	0.33086	.	0.258862	0.20581	N	0.089523	T	0.15955	0.0384	L	0.33485	1.01	0.36915	D	0.891098	B	0.15719	0.014	B	0.16289	0.015	T	0.03587	-1.1022	10	0.45353	T	0.12	.	10.881	0.46937	0.0:0.8141:0.0:0.1859	.	2211	P02549	SPTA1_HUMAN	H	2211;2208	ENSP00000357130:R2211H;ENSP00000357129:R2208H	ENSP00000357129:R2208H	R	-	2	0	SPTA1	156851786	0.999000	0.42202	0.503000	0.27626	0.986000	0.74619	3.516000	0.53436	0.501000	0.28013	0.655000	0.94253	CGT		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126		104	85	0	0	0	1	0	104	85		
LY9	4063	broad.mit.edu	37	1	160769712	160769712	+	Silent	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:160769712T>A	ENST00000263285.6	+	2	324	c.294T>A	c.(292-294)atT>atA	p.I98I	LY9_ENST00000392203.4_Silent_p.I98I|LY9_ENST00000368039.2_Silent_p.I98I|LY9_ENST00000368041.2_Silent_p.I58I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_De_novo_Start_InFrame|LY9_ENST00000368037.5_Silent_p.I98I|LY9_ENST00000341032.4_Silent_p.I98I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	98	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTAACCATTATGGTCAAAA	0.468																																						uc001fwu.2		NaN																	0				ovary(1)	1						c.(292-294)ATT>ATA		lymphocyte antigen 9 isoform a							100.0	101.0	100.0					1																	160769712		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769712T>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.294T>A	1.37:g.160769712T>A						LY9_uc001fwt.2_Silent_p.I98I|LY9_uc010pjs.1_Silent_p.I98I|LY9_uc001fwv.2_Silent_p.I98I|LY9_uc001fww.2_Silent_p.I98I|LY9_uc001fwx.2_Silent_p.I98I|LY9_uc001fwy.1_5'UTR	p.I98I	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	344	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		98			Extracellular (Potential).|Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.294T>A	CCDS30916.1																																																																																				0.468	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3		NM_002348		70	90	0	0	0	1	0	70	90		
ATF6	22926	broad.mit.edu	37	1	161789557	161789557	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:161789557G>A	ENST00000367942.3	+	8	1111	c.1044G>A	c.(1042-1044)ctG>ctA	p.L348L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	348	Leucine-zipper.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ACGAGCAACTGAAGAAAGAAA	0.448																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.(1042-1044)CTG>CTA		activating transcription factor 6							67.0	65.0	66.0					1																	161789557		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789557G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1044G>A	1.37:g.161789557G>A						ATF6_uc001gbq.1_Silent_p.L348L	p.L348L	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1111	+	all_hematologic(112;0.156)		348			Cytoplasmic (Potential).|Leucine-zipper.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.1044G>A	CCDS1235.1																																																																																				0.448	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348		19	27	0	0	0	1	0	19	27		
RASAL2	9462	broad.mit.edu	37	1	178063703	178063703	+	Missense_Mutation	SNP	G	G	A	rs564071894		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:178063703G>A	ENST00000367649.3	+	1	428	c.76G>A	c.(76-78)Gac>Aac	p.D26N	RASAL2-AS1_ENST00000421505.1_lincRNA|RASAL2_ENST00000448150.3_Missense_Mutation_p.D8N			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTGGAGTCCGACTCGCCGCT	0.706													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13763	0.0		0.0	False		,,,				2504	0.0					uc001glq.2		NaN																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(76-78)GAC>AAC		RAS protein activator like 2 isoform 2							19.0	18.0	18.0					1																	178063703		2198	4297	6495	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178063703G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.76G>A	1.37:g.178063703G>A	ENSP00000356621:p.Asp26Asn					RASAL2_uc009wxb.2_Missense_Mutation_p.D26N|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA	p.D26N	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			1	840	+			Error:Variant_position_missing_in_Q9UJF2_after_alignment					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000367649.3	37	c.76G>A	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392739	0.83011	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.21543	2.0;2.14	4.69	4.69	0.59074	.	0.148141	0.31438	N	0.007651	T	0.11495	0.0280	N	0.08118	0	0.31264	N	0.692506	P	0.36647	0.563	B	0.31337	0.128	T	0.08207	-1.0733	10	0.87932	D	0	.	14.8861	0.70570	0.0:0.0:1.0:0.0	.	26	F8W755	.	N	8;26	ENSP00000407768:D8N;ENSP00000356621:D26N	ENSP00000356621:D26N	D	+	1	0	RASAL2	176330326	0.991000	0.36638	1.000000	0.80357	0.974000	0.67602	1.438000	0.35002	2.295000	0.77249	0.491000	0.48974	GAC		0.706	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1		NM_170692		11	6	0	0	0	1	0	11	6		
TMCC2	9911	broad.mit.edu	37	1	205210828	205210828	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:205210828G>A	ENST00000358024.3	+	2	792	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.A57T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	135						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCTACGCCATGTCCCT	0.662																																						uc001hbz.1		NaN																	0				pancreas(1)	1						c.(403-405)GCC>ACC		transmembrane and coiled-coil domain family 2							72.0	58.0	63.0					1																	205210828		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205210828G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.403G>A	1.37:g.205210828G>A	ENSP00000350718:p.Ala135Thr					TMCC2_uc010prf.1_Missense_Mutation_p.A57T	p.A135T	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	847	+	Breast(84;0.0871)		135					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.403G>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868710	0.72065	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.34667	1.35;1.37	4.64	4.64	0.57946	.	0.084434	0.49916	D	0.000121	T	0.20700	0.0498	N	0.08118	0	0.48185	D	0.9996	B	0.32507	0.373	B	0.20184	0.028	T	0.15723	-1.0427	10	0.87932	D	0	.	17.4611	0.87620	0.0:0.0:1.0:0.0	.	135	O75069	TMCC2_HUMAN	T	135;57	ENSP00000350718:A135T;ENSP00000437943:A57T	ENSP00000350718:A135T	A	+	1	0	TMCC2	203477451	1.000000	0.71417	0.999000	0.59377	0.352000	0.29268	8.106000	0.89555	2.271000	0.75665	0.462000	0.41574	GCC		0.662	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1		NM_014858		19	35	0	0	0	1	0	19	35		
TP53BP2	7159	broad.mit.edu	37	1	223984287	223984287	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:223984287C>T	ENST00000343537.7	-	13	2245	c.1954G>A	c.(1954-1956)Ggt>Agt	p.G652S	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.G523S|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	646					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACAGGCTTACCATATACTAAT	0.398																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(1954-1956)GGT>AGT		tumor protein p53 binding protein, 2 isoform 1							51.0	59.0	56.0					1																	223984287		2161	4144	6305	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223984287C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1954G>A	1.37:g.223984287C>T	ENSP00000341957:p.Gly652Ser					TP53BP2_uc001hod.2_Missense_Mutation_p.G523S|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.G291S	p.G652S	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2246	-			646					B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.1954G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475274	0.96291	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.70399	-0.48;-0.24	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85499	0.1190	10	0.87932	D	0	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	652;646	B4DG66;Q13625	.;ASPP2_HUMAN	S	523;652	ENSP00000375750:G523S;ENSP00000341957:G652S	ENSP00000341957:G652S	G	-	1	0	TP53BP2	222050910	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	7.456000	0.80751	2.818000	0.97014	0.655000	0.94253	GGT		0.398	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		34	77	0	0	0	1	0	34	77		
OBSCN	84033	broad.mit.edu	37	1	228399647	228399647	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:228399647C>T	ENST00000422127.1	+	2	207	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R55C|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R55C|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	55	Ig-like 1.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCGGCGCGCGCTTCCGTCT	0.687																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(163-165)CGC>TGC		obscurin, cytoskeletal calmodulin and							7.0	10.0	9.0					1																	228399647		1980	4101	6081	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228399647C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.163C>T	1.37:g.228399647C>T	ENSP00000409493:p.Arg55Cys					OBSCN_uc001hsn.2_Missense_Mutation_p.R55C|uc001hsm.1_Intron	p.R55C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			2	207	+		Prostate(94;0.0405)	55			Ig-like 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.163C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512056	0.44660	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.53206	0.63;0.63	4.66	3.75	0.43078	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.079014	0.47852	N	0.000201	T	0.60945	0.2308	H	0.98333	4.205	0.80722	D	1	P;P	0.48162	0.906;0.885	B;B	0.39068	0.289;0.191	T	0.70927	-0.4739	10	0.66056	D	0.02	.	7.9551	0.30038	0.1989:0.7137:0.0:0.0874	.	55;55	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	55	ENSP00000284548:R55C;ENSP00000409493:R55C	ENSP00000284548:R55C	R	+	1	0	OBSCN	226466270	0.992000	0.36948	0.779000	0.31741	0.538000	0.34931	3.082000	0.50128	0.964000	0.38108	0.555000	0.69702	CGC		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		11	6	0	0	0	1	0	11	6		
RYR2	6262	broad.mit.edu	37	1	237756779	237756779	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:237756779T>A	ENST00000366574.2	+	33	4596	c.4279T>A	c.(4279-4281)Tat>Aat	p.Y1427N	RYR2_ENST00000360064.6_Missense_Mutation_p.Y1425N|RYR2_ENST00000542537.1_Missense_Mutation_p.Y1411N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1427	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCACAGTACTATTACTCAGT	0.388																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4279-4281)TAT>AAT		cardiac muscle ryanodine receptor							106.0	94.0	98.0					1																	237756779		1867	4098	5965	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756779T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4279T>A	1.37:g.237756779T>A	ENSP00000355533:p.Tyr1427Asn						p.Y1427N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4399	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1427			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4279T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285947	0.80803	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.79141	-1.24;-1.24;-1.24	4.97	4.97	0.65823	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.099482	0.41194	D	0.000929	D	0.82944	0.5147	M	0.64170	1.965	0.80722	D	1	D	0.53312	0.959	P	0.54815	0.761	D	0.85392	0.1126	10	0.87932	D	0	.	15.1035	0.72303	0.0:0.0:0.0:1.0	.	1427	Q92736	RYR2_HUMAN	N	1427;1425;1411	ENSP00000355533:Y1427N;ENSP00000353174:Y1425N;ENSP00000443798:Y1411N	ENSP00000353174:Y1425N	Y	+	1	0	RYR2	235823402	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.825000	0.86693	2.212000	0.71576	0.528000	0.53228	TAT		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		12	46	0	0	0	1	0	12	46		
DESI2	51029	broad.mit.edu	37	1	244868861	244868861	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:244868861C>G	ENST00000302550.11	+	5	734	c.355C>G	c.(355-357)Ctt>Gtt	p.L119V	DESI2_ENST00000263831.7_Missense_Mutation_p.L86V	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	119	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)	p.L119I(1)									TCTGTAGATTCTTTGTGGGAA	0.522																																						uc001iao.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	breast(3)	3						c.(355-357)CTT>GTT		PPPDE peptidase domain containing 1							91.0	97.0	95.0					1																	244868861		2203	4300	6503	SO:0001583	missense	51029							g.chr1:244868861C>G	AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.355C>G	1.37:g.244868861C>G	ENSP00000306528:p.Leu119Val					PPPDE1_uc001iap.2_Missense_Mutation_p.L86V|PPPDE1_uc001iaq.1_RNA	p.L119V	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN			5	619	+			119			PPPDE peptidase.		B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	ENST00000302550.11	37	c.355C>G	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600333	0.66332	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.16	6.16	0.99307	Domain of unknown function DUF862, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.85957	0.5818	H	0.95679	3.705	0.58432	D	0.999999	P;P	0.52061	0.938;0.95	P;P	0.55577	0.73;0.779	D	0.88490	0.3075	9	0.66056	D	0.02	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	86;119	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	V	119;86	.	ENSP00000263831:L86V	L	+	1	0	PPPDE1	242935484	0.998000	0.40836	0.996000	0.52242	0.806000	0.45545	3.258000	0.51507	2.937000	0.99478	0.650000	0.86243	CTT		0.522	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1		NM_016076		55	69	0	0	0	1	0	55	69		
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	G	A	rs562352417		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:248084484G>A	ENST00000319968.4	+	1	165	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		14633	0.0		0.0	False		,,,				2504	0.001					uc010pzc.1		NaN																	0					0						c.(163-165)ACG>ACA		olfactory receptor, family 2, subfamily T,							70.0	66.0	67.0					1																	248084484		2203	4299	6502	SO:0001819	synonymous_variant	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084484G>A		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.165G>A	1.37:g.248084484G>A							p.T55T	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	165	+	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)	all_cancers(173;0.0211)	55			Cytoplasmic (Potential).			Silent	SNP	ENST00000319968.4	37	c.165G>A	CCDS31100.1																																																																																				0.522	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1		NM_001005522		62	95	0	0	0	1	0	62	95		
CUBN	8029	broad.mit.edu	37	10	16883020	16883020	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:16883020C>T	ENST00000377833.4	-	61	9755	c.9690G>A	c.(9688-9690)gcG>gcA	p.A3230A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3230	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCAAGTTCGCATTTTCAC	0.368																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9688-9690)GCG>GCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						86.0	77.0	80.0					10																	16883020		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16883020C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9690G>A	10.37:g.16883020C>T							p.A3230A	NM_001081	NP_001072	O60494	CUBN_HUMAN			61	9742	-			3230			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9690G>A	CCDS7113.1																																																																																				0.368	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		14	15	0	0	0	1	0	14	15		
MASTL	84930	broad.mit.edu	37	10	27459681	27459681	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:27459681C>G	ENST00000375940.4	+	8	1850	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	MASTL_ENST00000375946.4_Missense_Mutation_p.S598C|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.S598C			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGAATCCTCTTTTGAAGAA	0.368																																						uc001itm.2		NaN																	0				stomach(1)|ovary(1)|lung(1)	3						c.(1792-1794)TCT>TGT		microtubule associated serine/threonine							35.0	36.0	35.0					10																	27459681		2203	4300	6503	SO:0001583	missense	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459681C>G	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1793C>G	10.37:g.27459681C>G	ENSP00000365107:p.Ser598Cys					MASTL_uc001itl.2_Missense_Mutation_p.S598C|MASTL_uc009xkw.1_Missense_Mutation_p.S598C|MASTL_uc009xkx.1_RNA	p.S598C	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			8	2432	+			598			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	c.1793C>G	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405607	0.62288	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.25912	1.77;1.77;1.77	5.28	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.274240	0.42053	D	0.000775	T	0.47040	0.1424	M	0.70275	2.135	0.53005	D	0.999963	D;D;D	0.69078	0.997;0.996;0.995	P;P;P	0.62014	0.897;0.807;0.823	T	0.52320	-0.8591	10	0.87932	D	0	-8.4714	14.2398	0.65950	0.0:0.9277:0.0:0.0722	.	598;598;598	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	C	598	ENSP00000365113:S598C;ENSP00000343446:S598C;ENSP00000365107:S598C	ENSP00000343446:S598C	S	+	2	0	MASTL	27499687	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.574000	0.46016	1.360000	0.45960	0.591000	0.81541	TCT		0.368	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1		NM_032844		10	23	0	0	0	1	0	10	23		
RET	5979	broad.mit.edu	37	10	43623613	43623613	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:43623613G>C	ENST00000355710.3	+	20	3473	c.3241G>C	c.(3241-3243)Gat>Cat	p.D1081H		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1081					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CACGAGAGCTGATGGCACTAA	0.438		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(3241-3243)GAT>CAT		ret proto-oncogene isoform a	Sunitinib(DB01268)						174.0	156.0	162.0					10																	43623613		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43623613G>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3241G>C	10.37:g.43623613G>C	ENSP00000347942:p.Asp1081His						p.D1081H	NM_020975	NP_066124	P07949	RET_HUMAN			20	3431	+		Ovarian(717;0.0423)	1081			Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3241G>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196720	0.79015	.	.	ENSG00000165731	ENST00000355710	D	0.94280	-3.39	5.52	5.52	0.82312	.	0.099841	0.64402	D	0.000002	D	0.94238	0.8150	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.94246	0.7489	10	0.48119	T	0.1	.	19.4325	0.94776	0.0:0.0:1.0:0.0	.	1081	P07949	RET_HUMAN	H	1081	ENSP00000347942:D1081H	ENSP00000347942:D1081H	D	+	1	0	RET	42943619	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.434000	0.97515	2.593000	0.87608	0.563000	0.77884	GAT		0.438	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		NM_020975		41	82	0	0	0	1	0	41	82		
ERCC6	2074	broad.mit.edu	37	10	50740776	50740776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:50740776G>A	ENST00000355832.5	-	2	313	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	PGBD3_ENST00000603152.1_Nonsense_Mutation_p.Q79*|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.Q79*|ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.Q79*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	79					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTGGATCTGATGTCGGTCG	0.622								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(235-237)CAG>TAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							120.0	105.0	110.0					10																	50740776		2203	4300	6503	SO:0001587	stop_gained	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50740776G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.235C>T	10.37:g.50740776G>A	ENSP00000348089:p.Gln79*					PGBD3_uc009xoe.2_Nonsense_Mutation_p.Q79*|PGBD3_uc001jhu.2_Nonsense_Mutation_p.Q79*	p.Q79*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			2	389	-			79					D3DX94|Q5W0L9	Nonsense_Mutation	SNP	ENST00000355832.5	37	c.235C>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187525	0.94923	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	.	.	.	5.8	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-20.2688	16.3707	0.83357	0.0:0.1316:0.8684:0.0	.	.	.	.	X	79	.	ENSP00000348089:Q79X	Q	-	1	0	ERCC6;RP11-123B3.6	50410782	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.039000	0.64185	2.758000	0.94735	0.563000	0.77884	CAG		0.622	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		25	33	0	0	0	1	0	25	33		
PRF1	5551	broad.mit.edu	37	10	72360386	72360386	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:72360386C>T	ENST00000441259.1	-	2	433	c.273G>A	c.(271-273)gcG>gcA	p.A91A	PRF1_ENST00000373209.2_Silent_p.A91A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	91	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		A -> V (in dbSNP:rs35947132).		apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGTGAGCGCCAGAGGCA	0.657			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2		NaN	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(271-273)GCG>GCA		perforin 1 precursor							25.0	26.0	26.0					10																	72360386		2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360386C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.273G>A	10.37:g.72360386C>T						PRF1_uc001jrf.3_Silent_p.A91A	p.A91A	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	434	-			91			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.273G>A	CCDS7305.1																																																																																				0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2		NM_005041		18	16	0	0	0	1	0	18	16		
SORCS3	22986	broad.mit.edu	37	10	106916969	106916969	+	Missense_Mutation	SNP	A	A	T	rs191629355	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:106916969A>T	ENST00000369701.3	+	10	1783	c.1556A>T	c.(1555-1557)aAc>aTc	p.N519I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	519					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATCACTTACAACAAAGGCAGG	0.512																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1555-1557)AAC>ATC		VPS10 domain receptor protein SORCS 3 precursor							121.0	106.0	111.0					10																	106916969		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106916969A>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1556A>T	10.37:g.106916969A>T	ENSP00000358715:p.Asn519Ile						p.N519I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	10	1783	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	519			BNR 4.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1556A>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924235	0.92319	.	.	ENSG00000156395	ENST00000369701	T	0.25085	1.82	6.04	6.04	0.98038	VPS10 (1);	0.094910	0.64402	D	0.000001	T	0.63189	0.2490	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73655	-0.3914	9	.	.	.	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	519	Q9UPU3	SORC3_HUMAN	I	519	ENSP00000358715:N519I	.	N	+	2	0	SORCS3	106906959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	AAC		0.512	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		27	24	0	0	0	1	0	27	24		
C10orf82	143379	broad.mit.edu	37	10	118424359	118424359	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:118424359C>G	ENST00000369210.3	-	4	428	c.374G>C	c.(373-375)aGa>aCa	p.R125T	C10orf82_ENST00000588184.1_Missense_Mutation_p.R125T	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	125										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		GACAGTGTATCTCGTGCCACA	0.522																																						uc001lcr.2		NaN																	0					0						c.(373-375)AGA>ACA		hypothetical protein LOC143379							145.0	134.0	138.0					10																	118424359		2203	4300	6503	SO:0001583	missense	143379							g.chr10:118424359C>G	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.374G>C	10.37:g.118424359C>G	ENSP00000358212:p.Arg125Thr					C10orf82_uc001lcs.1_3'UTR	p.R125T	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	429	-			125					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.374G>C	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115298	0.56505	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.51071	0.72	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000002	T	0.70254	0.3203	M	0.79475	2.455	0.31382	N	0.678897	D	0.89917	1.0	D	0.91635	0.999	T	0.74447	-0.3662	10	0.87932	D	0	-14.1168	16.1635	0.81734	0.0:1.0:0.0:0.0	.	125	Q8WW14	CJ082_HUMAN	T	125	ENSP00000358212:R125T	ENSP00000358212:R125T	R	-	2	0	C10orf82	118414349	0.853000	0.29707	0.609000	0.28983	0.181000	0.23173	2.978000	0.49305	2.894000	0.99253	0.655000	0.94253	AGA		0.522	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1		NM_144661		49	64	0	0	0	1	0	49	64		
KNDC1	85442	broad.mit.edu	37	10	135020668	135020668	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr10:135020668G>A	ENST00000304613.3	+	20	3628	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K	KNDC1_ENST00000368571.2_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.E1205K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1203					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)			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)		CTGGGGCCTGGAGCCCTGCAC	0.657																																						uc001llz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3607-3609)GAG>AAG		kinase non-catalytic C-lobe domain (KIND)							27.0	25.0	25.0					10																	135020668		2189	4292	6481	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020668G>A	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.3607G>A	10.37:g.135020668G>A	ENSP00000304437:p.Glu1203Lys					KNDC1_uc001lma.1_3'UTR	p.E1203K	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)	20	3608	+		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)	1203					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3607G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319430	0.60524	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.16073	2.37;2.37	3.63	3.63	0.41609	.	0.245854	0.32106	U	0.006568	T	0.31513	0.0799	M	0.64997	1.995	0.49213	D	0.999767	D	0.59357	0.985	P	0.55923	0.787	T	0.11867	-1.0570	10	0.66056	D	0.02	-31.6023	13.6027	0.62029	0.0:0.0:1.0:0.0	.	1203	Q76NI1	VKIND_HUMAN	K	1203;1205	ENSP00000304437:E1203K;ENSP00000357561:E1205K	ENSP00000304437:E1203K	E	+	1	0	KNDC1	134870658	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.568000	0.67385	1.977000	0.57605	0.431000	0.28591	GAG		0.657	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		4	8	0	0	0	1	0	4	8		
PLEKHA7	144100	broad.mit.edu	37	11	16838384	16838384	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:16838384C>T	ENST00000355661.3	-	11	1839	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G610E|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G610E			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	610	Interaction with CTNND1.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGAGAATCCCCCAGCGAGAT	0.657																																						uc001mmo.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1828-1830)GGG>GAG		pleckstrin homology domain containing, family A							58.0	52.0	54.0					11																	16838384		2199	4293	6492	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838384C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1829G>A	11.37:g.16838384C>T	ENSP00000347883:p.Gly610Glu					PLEKHA7_uc010rcu.1_Missense_Mutation_p.G610E|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G184E|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G318E	p.G610E	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			11	1844	-			610			Interaction with CTNND1.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1829G>A	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.933|3.933	-0.015831|-0.015831	0.07681|0.07681	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080|ENST00000530489	T;T;T|T	0.35236|0.35605	1.32;1.32;1.32|1.3	5.12|5.12	4.14|4.14	0.48551|0.48551	.|.	0.309978|0.309978	0.33834|0.33834	N|N	0.004516|0.004516	T|T	0.28067|0.28067	0.0692|0.0692	L|L	0.36672|0.36672	1.1|1.1	0.19300|0.19300	N|N	0.999978|0.999978	P;B;B;B|.	0.38195|.	0.622;0.239;0.294;0.274|.	B;B;B;B|.	0.32465|.	0.146;0.05;0.038;0.079|.	T|T	0.13176|0.13176	-1.0519|-1.0519	10|8	0.07175|0.15066	T|T	0.84|0.55	-19.5074|-19.5074	8.4811|8.4811	0.33043|0.33043	0.1341:0.5918:0.2741:0.0|0.1341:0.5918:0.2741:0.0	.|.	184;610;610;610|.	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2|.	.;.;PKHA7_HUMAN;.|.	E|R	610|241	ENSP00000435389:G610E;ENSP00000347883:G610E;ENSP00000416895:G610E|ENSP00000433467:G241R	ENSP00000347883:G610E|ENSP00000433467:G241R	G|G	-|-	2|1	0|0	PLEKHA7|PLEKHA7	16794960|16794960	0.035000|0.035000	0.19736|0.19736	0.092000|0.092000	0.20876|0.20876	0.829000|0.829000	0.46940|0.46940	2.547000|2.547000	0.45786|0.45786	2.371000|2.371000	0.80710|0.80710	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.657	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058		49	5	0	0	0	1	0	49	5		
ALX4	60529	broad.mit.edu	37	11	44296955	44296955	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:44296955G>A	ENST00000329255.3	-	2	823	c.720C>T	c.(718-720)gaC>gaT	p.D240D		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	240					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCGCATACACGTCTGGGTAGT	0.617																																						uc001myb.2		NaN																	0					0						c.(718-720)GAC>GAT		aristaless-like homeobox 4							110.0	109.0	109.0					11																	44296955		2203	4299	6502	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44296955G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.720C>T	11.37:g.44296955G>A							p.D240D	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			2	824	-			240			Homeobox.		Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.720C>T	CCDS31468.1																																																																																				0.617	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1				106	13	0	0	0	1	0	106	13		
PATL1	219988	broad.mit.edu	37	11	59415362	59415362	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:59415362C>T	ENST00000300146.9	-	15	1842	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	586	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACACATGATCTGTACAAAGT	0.438																																						uc001noe.3		NaN																	0				ovary(1)	1						c.(1756-1758)CAG>CAA		protein associated with topoisomerase II homolog							96.0	89.0	91.0					11																	59415362		1916	4141	6057	SO:0001819	synonymous_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59415362C>T	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1758G>A	11.37:g.59415362C>T						PATL1_uc009yms.1_Silent_p.Q556Q	p.Q586Q	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN			15	1901	-			586			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	ENST00000300146.9	37	c.1758G>A	CCDS44613.1																																																																																				0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1		NM_152716		20	30	0	0	0	1	0	20	30		
MS4A12	54860	broad.mit.edu	37	11	60264894	60264894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:60264894G>T	ENST00000016913.4	+	2	160	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	MS4A12_ENST00000537076.1_Missense_Mutation_p.G35C|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	35						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ACAGCCTCTGGGTTCAATCAA	0.507																																						uc001npr.2		NaN																	0					0						c.(103-105)GGT>TGT		membrane-spanning 4-domains, subfamily A, member							91.0	90.0	90.0					11																	60264894		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60264894G>T	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.103G>T	11.37:g.60264894G>T	ENSP00000016913:p.Gly35Cys					MS4A12_uc009ynb.2_Missense_Mutation_p.G35C	p.G35C	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			2	160	+			35			Cytoplasmic (Potential).		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.103G>T	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891616	0.52014	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.58060	1.28;0.38;3.09;0.36	4.44	-3.69	0.04450	.	37.667900	0.00166	N	0.000011	T	0.58864	0.2152	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.967;0.927	T	0.57177	-0.7856	10	0.59425	D	0.04	.	10.1451	0.42758	0.4802:0.0:0.5198:0.0	.	35;35	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	C	35	ENSP00000440424:G35C;ENSP00000431959:G35C;ENSP00000016913:G35C;ENSP00000434783:G35C	ENSP00000016913:G35C	G	+	1	0	MS4A12	60021470	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	-0.889000	0.04144	-0.822000	0.04306	0.563000	0.77884	GGT		0.507	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1				80	86	1	0	4.81439e-37	1	5.01864e-37	80	86		
INPPL1	3636	broad.mit.edu	37	11	71949104	71949104	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:71949104G>T	ENST00000298229.2	+	27	3775	c.3571G>T	c.(3571-3573)Ggg>Tgg	p.G1191W	INPPL1_ENST00000538751.1_Missense_Mutation_p.G949W|INPPL1_ENST00000541756.1_Missense_Mutation_p.G949W|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1191					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTGCAGGGCGGGCGGGCCAG	0.657											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001osf.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(3571-3573)GGG>TGG		inositol polyphosphate phosphatase-like 1							16.0	18.0	17.0					11																	71949104		2195	4292	6487	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949104G>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3571G>T	11.37:g.71949104G>T	ENSP00000298229:p.Gly1191Trp		OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_uc001osg.2_Missense_Mutation_p.G949W	p.G1191W	NM_001567	NP_001558	O15357	SHIP2_HUMAN			27	3718	+			1191					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3571G>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	15.27	2.785184	0.49997	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.96651	-3.0;-4.08;-4.08	4.84	4.84	0.62591	Sterile alpha motif/pointed domain (1);	0.076385	0.53938	D	0.000054	D	0.94515	0.8234	N	0.14661	0.345	0.38248	D	0.94153	D	0.69078	0.997	P	0.54312	0.748	D	0.96427	0.9316	10	0.87932	D	0	.	16.6984	0.85342	0.0:0.0:1.0:0.0	.	1191	O15357	SHIP2_HUMAN	W	1191;949;949	ENSP00000298229:G1191W;ENSP00000446360:G949W;ENSP00000444619:G949W	ENSP00000298229:G1191W	G	+	1	0	INPPL1	71626752	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.874000	0.63064	2.503000	0.84419	0.591000	0.81541	GGG		0.657	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1		NM_001567		23	19	1	0	0.000586117	1	0.000589545	23	19		
PPME1	51400	broad.mit.edu	37	11	73958134	73958134	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:73958134A>G	ENST00000328257.8	+	11	1298	c.975A>G	c.(973-975)agA>agG	p.R325R	PPME1_ENST00000398427.4_Silent_p.R339R|PPME1_ENST00000543525.1_Silent_p.R138R|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	325					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					GTGTTGATAGATTGGATAAAG	0.348																																						uc001ouw.2		NaN																	0					0						c.(973-975)AGA>AGG		protein phosphatase methylesterase 1							102.0	97.0	98.0					11																	73958134		1834	4078	5912	SO:0001819	synonymous_variant	51400				protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr11:73958134A>G		CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.975A>G	11.37:g.73958134A>G						PPME1_uc009yty.2_Silent_p.R209R|PPME1_uc001oux.2_Silent_p.R138R	p.R325R	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN			11	1074	+	Breast(11;3.29e-05)		325					B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Silent	SNP	ENST00000328257.8	37	c.975A>G	CCDS44678.1																																																																																				0.348	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398254.1		NM_016147		15	17	0	0	0	1	0	15	17		
P4HA3	283208	broad.mit.edu	37	11	74009284	74009284	+	Missense_Mutation	SNP	C	C	G	rs142768884	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:74009284C>G	ENST00000331597.4	-	4	735	c.690G>C	c.(688-690)ttG>ttC	p.L230F	P4HA3_ENST00000427714.2_Missense_Mutation_p.L230F	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	230						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CCAAGTGATCCAAGGCATCTT	0.443																																						uc001ouz.2		NaN																	0				skin(1)	1						c.(688-690)TTG>TTC		prolyl 4-hydroxylase, alpha III subunit							100.0	89.0	93.0					11																	74009284		2200	4293	6493	SO:0001583	missense	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74009284C>G	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.690G>C	11.37:g.74009284C>G	ENSP00000332170:p.Leu230Phe					P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L230F	p.L230F	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN			4	733	-	Breast(11;2.31e-05)		230			TPR.		A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	c.690G>C	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857341	0.71834	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.65732	0.0;-0.17	5.55	4.64	0.57946	Tetratricopeptide-like helical (1);	0.149230	0.46442	D	0.000289	T	0.80518	0.4638	M	0.87682	2.9	0.53688	D	0.999972	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.974	D	0.83866	0.0271	10	0.87932	D	0	-13.7795	12.2381	0.54526	0.0:0.9186:0.0:0.0814	.	230;230	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	F	230	ENSP00000332170:L230F;ENSP00000401749:L230F	ENSP00000332170:L230F	L	-	3	2	P4HA3	73686932	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.705000	0.37867	1.591000	0.50007	-0.140000	0.14226	TTG		0.443	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1		NM_182904		48	87	0	0	0	1	0	48	87		
FAT3	120114	broad.mit.edu	37	11	92531924	92531924	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:92531924C>T	ENST00000298047.6	+	9	5762	c.5745C>T	c.(5743-5745)ccC>ccT	p.P1915P	FAT3_ENST00000525166.1_Silent_p.P1765P|FAT3_ENST00000409404.2_Silent_p.P1915P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1915	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGAGGTACCCCCTGAACTGA	0.418										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(5743-5745)CCC>CCT		FAT tumor suppressor homolog 3							83.0	74.0	77.0					11																	92531924		1932	4137	6069	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531924C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5745C>T	11.37:g.92531924C>T		TCGA Ovarian(4;0.039)					p.P1915P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5762	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1915			Cadherin 17.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5745C>T																																																																																					0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		25	3	0	0	0	1	0	25	3		
BUD13	84811	broad.mit.edu	37	11	116633513	116633513	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr11:116633513G>A	ENST00000260210.4	-	4	815	c.792C>T	c.(790-792)ctC>ctT	p.L264L	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	264	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGCCCTTCTGAGTTGCTGTG	0.517																																						uc001ppn.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(790-792)CTC>CTT		BUD13 homolog isoform 1							134.0	145.0	141.0					11																	116633513		2201	4296	6497	SO:0001819	synonymous_variant	84811							g.chr11:116633513G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.792C>T	11.37:g.116633513G>A						BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Silent_p.L264L	p.L264L	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	826	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	264			Arg-rich.		A8K0S0|Q96LS7	Silent	SNP	ENST00000260210.4	37	c.792C>T	CCDS8374.1																																																																																				0.517	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725		140	14	0	0	0	1	0	140	14		
GRIN2B	2904	broad.mit.edu	37	12	13716716	13716716	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:13716716G>A	ENST00000609686.1	-	13	3665	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1152					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGATGTCGGTCAGGTCTA	0.577																																						uc001rbt.2		NaN																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3454-3456)ACC>ACT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						109.0	90.0	96.0					12																	13716716		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716716G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3456C>T	12.37:g.13716716G>A							p.T1152T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3635	-			1152			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3456C>T	CCDS8662.1																																																																																				0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2				66	33	0	0	0	1	0	66	33		
MCRS1	10445	broad.mit.edu	37	12	49957275	49957275	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:49957275C>G	ENST00000550165.1	-	8	878	c.612G>C	c.(610-612)caG>caC	p.Q204H	MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000357123.4_Missense_Mutation_p.Q217H|MCRS1_ENST00000343810.4_Missense_Mutation_p.Q204H|MCRS1_ENST00000546244.1_Missense_Mutation_p.Q13H			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	204					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GGGCCTTGCTCTGGATGGCTG	0.597																																						uc001ruk.1		NaN																	0				large_intestine(1)	1						c.(610-612)CAG>CAC		microspherule protein 1 isoform 1							78.0	63.0	68.0					12																	49957275		2203	4300	6503	SO:0001583	missense	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49957275C>G	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.612G>C	12.37:g.49957275C>G	ENSP00000448056:p.Gln204His					MCRS1_uc001rui.1_Missense_Mutation_p.Q217H|MCRS1_uc001ruj.1_Missense_Mutation_p.Q191H|MCRS1_uc001rul.1_Missense_Mutation_p.Q204H|MCRS1_uc009zlj.1_Missense_Mutation_p.Q13H|MCRS1_uc001rum.1_Missense_Mutation_p.Q191H|MCRS1_uc001run.1_Missense_Mutation_p.Q204H	p.Q204H	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN			7	803	-			204					O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	c.612G>C	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344965	0.82022	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	M	0.64404	1.975	0.80722	D	1	D;P;P	0.69078	0.997;0.677;0.928	D;B;P	0.68483	0.958;0.219;0.601	T	0.75684	-0.3232	9	0.49607	T	0.09	-31.2694	17.8152	0.88630	0.0:1.0:0.0:0.0	.	191;204;217	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	H	13;204;204;217;191;204	.	ENSP00000345358:Q204H	Q	-	3	2	MCRS1	48243542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.823000	0.55715	2.804000	0.96469	0.655000	0.94253	CAG		0.597	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1		NM_006337		6	13	0	0	0	1	0	6	13		
KIF5A	3798	broad.mit.edu	37	12	57963097	57963097	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:57963097G>A	ENST00000455537.2	+	10	1152	c.878G>A	c.(877-879)gGg>gAg	p.G293E	KIF5A_ENST00000286452.5_Missense_Mutation_p.G204E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	293	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GACTCTCTCGGGGGAAACTGC	0.478																																						uc001sor.1		NaN																	0				ovary(2)|skin(1)	3						c.(877-879)GGG>GAG		kinesin family member 5A							70.0	68.0	69.0					12																	57963097		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963097G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.878G>A	12.37:g.57963097G>A	ENSP00000408979:p.Gly293Glu					KIF5A_uc010srr.1_Missense_Mutation_p.G204E	p.G293E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			10	1086	+			293			Kinesin-motor.|Microtubule-binding.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.878G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608567	0.87258	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.76448	-1.02;-1.02	4.23	4.23	0.50019	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93943	0.7225	10	0.87932	D	0	.	15.9283	0.79639	0.0:0.0:1.0:0.0	.	204;293	B7Z2M7;Q12840	.;KIF5A_HUMAN	E	293;204	ENSP00000408979:G293E;ENSP00000286452:G204E	ENSP00000286452:G204E	G	+	2	0	KIF5A	56249364	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.295000	0.96095	2.362000	0.80069	0.555000	0.69702	GGG		0.478	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1		NM_004984		22	71	0	0	0	1	0	22	71		
MYF5	4617	broad.mit.edu	37	12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622																																						uc001szg.2		NaN																	0				ovary(1)	1						c.(103-105)CGA>TGA		myogenic factor 5							41.0	38.0	39.0					12																	81110945		2203	4300	6503	SO:0001587	stop_gained	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110945C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.103C>T	12.37:g.81110945C>T	ENSP00000228644:p.Arg35*						p.R35*	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	238	+			35					Q6ISR9	Nonsense_Mutation	SNP	ENST00000228644.3	37	c.103C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765066	0.90020	.	.	ENSG00000111049	ENST00000228644	.	.	.	6.17	-1.37	0.09056	.	0.214881	0.39210	N	0.001440	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2243	13.701	0.62608	0.7448:0.1685:0.0868:0.0	.	.	.	.	X	35	.	ENSP00000228644:R35X	R	+	1	2	MYF5	79635076	0.000000	0.05858	0.000000	0.03702	0.788000	0.44548	-0.217000	0.09253	-0.104000	0.12154	-0.182000	0.12963	CGA		0.622	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1		NM_005593		46	19	0	0	0	1	0	46	19		
TRPV4	59341	broad.mit.edu	37	12	110238434	110238434	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr12:110238434T>C	ENST00000418703.2	-	4	936	c.842A>G	c.(841-843)tAc>tGc	p.Y281C	TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000536838.1_Missense_Mutation_p.Y247C|TRPV4_ENST00000346520.2_Missense_Mutation_p.Y281C|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.Y281C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	281					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAAGTAGAAGTAGCCCCCCTC	0.612																																						uc001tpj.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(841-843)TAC>TGC		transient receptor potential cation channel,							54.0	49.0	50.0					12																	110238434		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110238434T>C	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.842A>G	12.37:g.110238434T>C	ENSP00000406191:p.Tyr281Cys					TRPV4_uc001tpg.1_Missense_Mutation_p.Y247C|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.Y281C|TRPV4_uc001tpl.1_Missense_Mutation_p.Y281C	p.Y281C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			4	937	-			281			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.842A>G	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714180	0.48622	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.92	4.92	0.64577	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	N	0.16656	0.425	0.49687	D	0.999813	P;B;B	0.46020	0.871;0.12;0.003	P;B;B	0.45681	0.49;0.017;0.002	T	0.62383	-0.6866	10	0.38643	T	0.18	-17.0727	13.7187	0.62714	0.0:0.0:0.0:1.0	.	281;281;247	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	C	281;281;281;281;247	ENSP00000406191:Y281C;ENSP00000261740:Y281C;ENSP00000319003:Y281C;ENSP00000442738:Y281C;ENSP00000444336:Y247C	ENSP00000261740:Y281C	Y	-	2	0	TRPV4	108722817	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.537000	0.60643	1.981000	0.57761	0.533000	0.62120	TAC		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1		NM_021625		61	28	0	0	0	1	0	61	28		
SACS	26278	broad.mit.edu	37	13	23908464	23908464	+	Missense_Mutation	SNP	C	C	T	rs200453385		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:23908464C>T	ENST00000382292.3	-	9	9824	c.9551G>A	c.(9550-9552)cGc>cAc	p.R3184H	SACS_ENST00000382298.3_Missense_Mutation_p.R3184H|SACS_ENST00000402364.1_Missense_Mutation_p.R2434H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3184					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTCTTTGCGGGATGGAAT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		18428	0.0		0.001	False		,,,				2504	0.0					uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(9550-9552)CGC>CAC		sacsin							33.0	32.0	32.0					13																	23908464		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908464C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9551G>A	13.37:g.23908464C>T	ENSP00000371729:p.Arg3184His					SACS_uc001uoo.2_Missense_Mutation_p.R3037H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.R3184H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	10140	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3184					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9551G>A	CCDS9300.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.28	3.350150	0.61183	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87179	-2.08;-2.22;-2.08	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	L	0.27053	0.805	0.49915	D	0.999837	D	0.76494	0.999	D	0.68192	0.956	D	0.83905	0.0292	10	0.12430	T	0.62	.	19.6412	0.95758	0.0:1.0:0.0:0.0	.	3184	Q9NZJ4	SACS_HUMAN	H	3184;2434;3184	ENSP00000371729:R3184H;ENSP00000385844:R2434H;ENSP00000371735:R3184H	ENSP00000371729:R3184H	R	-	2	0	SACS	22806464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.710000	0.92621	0.555000	0.69702	CGC		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		11	13	0	0	0	1	0	11	13		
PABPC3	5042	broad.mit.edu	37	13	25671775	25671775	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:25671775C>G	ENST00000281589.3	+	1	1476	c.1439C>G	c.(1438-1440)tCa>tGa	p.S480*		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	480					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		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)		GCTAACACATCAACACAGACA	0.552																																						uc001upy.2		NaN																	0				ovary(3)|skin(1)	4						c.(1438-1440)TCA>TGA		poly(A) binding protein, cytoplasmic 3							78.0	70.0	73.0					13																	25671775		2203	4300	6503	SO:0001587	stop_gained	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671775C>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1439C>G	13.37:g.25671775C>G	ENSP00000281589:p.Ser480*						p.S480*	NM_030979	NP_112241	Q9H361	PABP3_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	1500	+		Lung SC(185;0.0225)|Breast(139;0.0602)	480					Q8NHV0|Q9H086	Nonsense_Mutation	SNP	ENST00000281589.3	37	c.1439C>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875702	0.72180	.	.	ENSG00000151846	ENST00000281589	.	.	.	0.875	0.875	0.19130	.	0.000000	0.39759	U	0.001276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	.	.	.	X	480	.	ENSP00000281589:S480X	S	+	2	0	PABPC3	24569775	1.000000	0.71417	0.966000	0.40874	0.152000	0.21847	3.213000	0.51153	0.759000	0.33084	0.313000	0.20887	TCA		0.552	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2		NM_030979		31	55	0	0	0	1	0	31	55		
FLT1	2321	broad.mit.edu	37	13	29012388	29012388	+	Silent	SNP	C	C	T	rs116486684	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:29012388C>T	ENST00000282397.4	-	4	734	c.483G>A	c.(481-483)acG>acA	p.T161T	FLT1_ENST00000539099.1_Silent_p.T161T|FLT1_ENST00000541932.1_Silent_p.T161T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	161	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTAGGTGACGTAACCCGGC	0.398													C|||	5	0.000998403	0.0	0.0	5008	,	,		19772	0.005		0.0	False		,,,				2504	0.0					uc001usb.3		NaN																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(481-483)ACG>ACA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						125.0	109.0	114.0					13																	29012388		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29012388C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.483G>A	13.37:g.29012388C>T						FLT1_uc010aar.1_Silent_p.T161T|FLT1_uc001usc.3_Silent_p.T161T|FLT1_uc010tdp.1_Silent_p.T161T	p.T161T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	4	768	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	161			Ig-like C2-type 2.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.483G>A	CCDS9330.1																																																																																				0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1				11	11	0	0	0	1	0	11	11		
HS6ST3	266722	broad.mit.edu	37	13	96743176	96743176	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:96743176C>G	ENST00000376705.2	+	1	84	c.60C>G	c.(58-60)gtC>gtG	p.V20V		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	20					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCTTCGTGGTCATCATGTACC	0.697																																						uc001vmw.2		NaN																	0				ovary(1)|skin(1)	2						c.(58-60)GTC>GTG		heparan sulfate 6-O-sulfotransferase 3							55.0	58.0	57.0					13																	96743176		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:96743176C>G	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.60C>G	13.37:g.96743176C>G							p.V20V	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			1	84	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		20			Helical; Signal-anchor for type II membrane protein; (Potential).		Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.60C>G	CCDS9481.1																																																																																				0.697	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2		NM_153456		16	27	0	0	0	1	0	16	27		
COL4A2	1284	broad.mit.edu	37	13	111164350	111164350	+	Missense_Mutation	SNP	C	C	T	rs569071842		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr13:111164350C>T	ENST00000360467.5	+	48	5257	c.4951C>T	c.(4951-4953)Cgc>Tgc	p.R1651C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1651	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAGGACTTCCGCGCCACACC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		14337	0.001		0.0	False		,,,				2504	0.0					uc001vqx.2		NaN																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(4951-4953)CGC>TGC		alpha 2 type IV collagen preproprotein							58.0	65.0	63.0					13																	111164350		2113	4240	6353	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111164350C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4951C>T	13.37:g.111164350C>T	ENSP00000353654:p.Arg1651Cys						p.R1651C	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		48	5240	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1651			Collagen IV NC1.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4951C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279639	0.59758	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.95001	-3.58	4.91	3.97	0.46021	C-type lectin fold (1);	0.000000	0.49305	D	0.000156	D	0.97813	0.9282	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98202	1.0468	10	0.87932	D	0	.	12.0671	0.53594	0.308:0.692:0.0:0.0	.	1651	P08572	CO4A2_HUMAN	C	1651	ENSP00000353654:R1651C	ENSP00000257309:R1651C	R	+	1	0	COL4A2	109962351	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.305000	0.33493	2.258000	0.74832	0.561000	0.74099	CGC		0.617	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846		34	74	0	0	0	1	0	34	74		
OR6S1	341799	broad.mit.edu	37	14	21108981	21108981	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:21108981T>C	ENST00000320704.3	-	1	869	c.870A>G	c.(868-870)ccA>ccG	p.P290P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CATAGATGAATGGATTCAACA	0.433																																						uc001vxv.1		NaN																	0				ovary(1)|skin(1)	2						c.(868-870)CCA>CCG		olfactory receptor, family 6, subfamily S,							205.0	183.0	190.0					14																	21108981		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21108981T>C	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.870A>G	14.37:g.21108981T>C							p.P290P	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	870	-	all_cancers(95;0.00304)		290			Helical; Name=7; (Potential).		Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.870A>G	CCDS32038.1																																																																																				0.433	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1				78	102	0	0	0	1	0	78	102		
FBXO34	55030	broad.mit.edu	37	14	55817949	55817949	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:55817949G>C	ENST00000313833.4	+	2	1086	c.841G>C	c.(841-843)Gac>Cac	p.D281H	FBXO34_ENST00000440021.1_Missense_Mutation_p.D281H	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	281										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CCGTGTCCTTGACATGGTAGC	0.552																																						uc001xbu.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(841-843)GAC>CAC		F-box only protein 34							107.0	107.0	107.0					14																	55817949		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55817949G>C	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.841G>C	14.37:g.55817949G>C	ENSP00000313159:p.Asp281His					FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.D281H	p.D281H	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	1086	+			281					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.841G>C	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523572	0.64747	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.51325	0.71;0.71	5.48	5.48	0.80851	.	0.307194	0.29699	N	0.011435	T	0.69043	0.3067	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.70189	-0.4940	10	0.87932	D	0	-15.0269	19.5559	0.95347	0.0:0.0:1.0:0.0	.	281	Q9NWN3	FBX34_HUMAN	H	281	ENSP00000313159:D281H;ENSP00000394117:D281H	ENSP00000313159:D281H	D	+	1	0	FBXO34	54887702	1.000000	0.71417	0.976000	0.42696	0.830000	0.47004	7.355000	0.79434	2.861000	0.98227	0.650000	0.86243	GAC		0.552	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1				88	81	0	0	0	1	0	88	81		
ATP10A	57194	broad.mit.edu	37	15	25969114	25969114	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:25969114G>A	ENST00000356865.6	-	6	1145	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	345					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATCAGACTTGGGGACATAAAA	0.373																																						uc010ayu.2		NaN																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1033-1035)CCC>CTC		ATPase, class V, type 10A							144.0	143.0	143.0					15																	25969114		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	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.chr15:25969114G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1034C>T	15.37:g.25969114G>A	ENSP00000349325:p.Pro345Leu						p.P345L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	6	1140	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	345			Extracellular (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1034C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346829	0.24426	.	.	ENSG00000206190	ENST00000356865	T	0.37752	1.18	5.3	5.3	0.74995	ATPase, P-type, ATPase-associated domain (1);	0.067549	0.64402	D	0.000013	T	0.30759	0.0775	L	0.31065	0.9	0.58432	D	0.999994	B	0.18310	0.027	B	0.30782	0.12	T	0.07731	-1.0757	10	0.42905	T	0.14	-27.1674	12.6543	0.56778	0.076:0.0:0.924:0.0	.	345	O60312	AT10A_HUMAN	L	345	ENSP00000349325:P345L	ENSP00000349325:P345L	P	-	2	0	ATP10A	23520207	1.000000	0.71417	0.874000	0.34290	0.065000	0.16274	4.780000	0.62382	2.653000	0.90120	0.563000	0.77884	CCC		0.373	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		44	74	0	0	0	1	0	44	74		
GABRA5	2558	broad.mit.edu	37	15	27126006	27126006	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:27126006C>T	ENST00000335625.5	+	4	988	c.100C>T	c.(100-102)Cca>Tca	p.P34S	GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Missense_Mutation_p.P34S|GABRA5_ENST00000400081.3_Missense_Mutation_p.P34S|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	34					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TTCACAGATGCCAACCAGTTC	0.418																																						uc001zbd.1		NaN																	0				ovary(1)	1						c.(100-102)CCA>TCA		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						91.0	90.0	90.0					15																	27126006		1919	4140	6059	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27126006C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.100C>T	15.37:g.27126006C>T	ENSP00000335592:p.Pro34Ser					GABRB3_uc001zbb.2_Intron	p.P34S	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	5	439	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	34			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.100C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	1.309	-0.602678	0.03744	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T;T	0.79940	-0.45;-0.45;0.42;-0.45;-0.98;-1.0;-1.32;-1.09	4.91	3.98	0.46160	.	0.362409	0.28560	N	0.014913	T	0.58337	0.2115	N	0.08118	0	0.38393	D	0.945464	B	0.06786	0.001	B	0.06405	0.002	T	0.54675	-0.8258	10	0.05833	T	0.94	.	11.7165	0.51657	0.3211:0.6789:0.0:0.0	.	34	P31644	GBRA5_HUMAN	S	34;34;2;34;34;34;34;2	ENSP00000335592:P34S;ENSP00000347557:P34S;ENSP00000450653:P2S;ENSP00000382953:P34S;ENSP00000451527:P34S;ENSP00000450806:P34S;ENSP00000450717:P34S;ENSP00000450529:P2S	ENSP00000335592:P34S	P	+	1	0	GABRA5	24677099	1.000000	0.71417	0.995000	0.50966	0.125000	0.20455	0.730000	0.26043	1.277000	0.44412	0.561000	0.74099	CCA		0.418	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1				21	39	0	0	0	1	0	21	39		
RFX7	64864	broad.mit.edu	37	15	56388173	56388173	+	Missense_Mutation	SNP	C	C	T	rs140370063		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:56388173C>T	ENST00000559447.2	-	9	1733	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	RFX7_ENST00000317318.6_Missense_Mutation_p.E585K|RFX7_ENST00000422057.1_Missense_Mutation_p.E488K|RFX7_ENST00000423270.1_Missense_Mutation_p.E585K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	488					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATGACACCTTCATTTGAAGGT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		22592	0.0		0.001	False		,,,				2504	0.0					uc010bfn.2		NaN																	0					0						c.(1753-1755)GAA>AAA		regulatory factor X domain containing 2		C	LYS/GLU	0,3792		0,0,1896	107.0	94.0	98.0		1753	5.1	0.8	15	dbSNP_134	98	3,8217		0,3,4107	yes	missense	RFX7	NM_022841.5	56	0,3,6003	TT,TC,CC		0.0365,0.0,0.025	benign	585/1461	56388173	3,12009	1896	4110	6006	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388173C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1462G>A	15.37:g.56388173C>T	ENSP00000453281:p.Glu488Lys					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.E399K	p.E585K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	1753	-			488					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1753G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.37	1.918450	0.33908	0.0	3.65E-4	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55760	0.5;0.5;0.5	5.09	5.09	0.68999	.	0.165226	0.41097	D	0.000941	T	0.35278	0.0926	N	0.14661	0.345	0.36203	D	0.850832	B;P	0.43094	0.164;0.799	B;B	0.37650	0.027;0.255	T	0.52041	-0.8628	10	0.56958	D	0.05	-8.8154	13.251	0.60052	0.0:0.8407:0.1593:0.0	.	488;488	Q2KHR2;C9JU50	RFX7_HUMAN;.	K	488;585;585	ENSP00000387504:E488K;ENSP00000313299:E585K;ENSP00000397644:E585K	ENSP00000313299:E585K	E	-	1	0	RFX7	54175465	0.999000	0.42202	0.756000	0.31282	0.998000	0.95712	4.264000	0.58859	2.336000	0.79503	0.655000	0.94253	GAA		0.458	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3		NM_022841		21	14	0	0	0	1	0	21	14		
C15orf27	123591	broad.mit.edu	37	15	76496330	76496330	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr15:76496330C>T	ENST00000388942.3	+	11	1546	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	424					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGAGCCCGGCCCTTCTCCCCC	0.701																																						uc002bbq.2		NaN																	0					0						c.(1270-1272)CCT>TCT		hypothetical protein LOC123591							16.0	18.0	18.0					15																	76496330		2196	4291	6487	SO:0001583	missense	123591					integral to membrane		g.chr15:76496330C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1270C>T	15.37:g.76496330C>T	ENSP00000373594:p.Pro424Ser					C15orf27_uc010bkp.2_Missense_Mutation_p.P240S|C15orf27_uc002bbr.2_Missense_Mutation_p.P240S|C15orf27_uc002bbs.2_Missense_Mutation_p.P102S	p.P424S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			11	1425	+			424					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1270C>T	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.059884	0.00386	.	.	ENSG00000169758	ENST00000388942	T	0.28255	1.62	4.66	1.55	0.23275	.	0.475184	0.24185	N	0.040774	T	0.11024	0.0269	N	0.04508	-0.205	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12156	0.007;0.002	T	0.20706	-1.0267	10	0.23891	T	0.37	-14.7143	3.852	0.08959	0.3482:0.4549:0.0:0.1969	.	388;424	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	S	424	ENSP00000373594:P424S	ENSP00000373594:P424S	P	+	1	0	C15orf27	74283385	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.272000	0.18644	0.343000	0.23821	0.455000	0.32223	CCT		0.701	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2		NM_152335		28	38	0	0	0	1	0	28	38		
MKL2	57496	broad.mit.edu	37	16	14339510	14339510	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:14339510A>T	ENST00000341243.5	+	9	1172	c.1172A>T	c.(1171-1173)gAc>gTc	p.D391V	MKL2_ENST00000318282.5_Missense_Mutation_p.D402V|MKL2_ENST00000571589.1_Missense_Mutation_p.D402V|MKL2_ENST00000574045.1_Missense_Mutation_p.D402V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	391	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTGGATGACTTAAAGGTG	0.433																																						uc010uza.1		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1204-1206)GAC>GTC		megakaryoblastic leukemia 2 protein							157.0	140.0	146.0					16																	14339510		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14339510A>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1172A>T	16.37:g.14339510A>T	ENSP00000345841:p.Asp391Val					MKL2_uc002dcg.2_Missense_Mutation_p.D402V|MKL2_uc002dcj.2_5'Flank	p.D402V	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			11	1360	+			391			SAP.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1205A>T		.	.	.	.	.	.	.	.	.	.	A	27.2	4.810227	0.90707	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.98	5.98	0.97165	.	0.091836	0.85682	D	0.000000	T	0.77968	0.4210	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.87578	0.913;0.998	T	0.80084	-0.1530	9	0.87932	D	0	-21.5605	15.6425	0.77016	1.0:0.0:0.0:0.0	.	402;402	B4DGT8;Q9ULH7-4	.;.	V	402;391	.	ENSP00000339086:D402V	D	+	2	0	MKL2	14247011	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.413000	0.90235	2.285000	0.76669	0.533000	0.62120	GAC		0.433	MKL2-202	KNOWN	basic	protein_coding	protein_coding			NM_014048		61	94	0	0	0	1	0	61	94		
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr16:67289057C>T	ENST00000299798.11	+	3	689	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	208					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592																																						uc002esm.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(622-624)GGC>GGT		solute carrier family 9 (sodium/hydrogen							116.0	117.0	117.0					16																	67289057		2181	4284	6465	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289057C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.624C>T	16.37:g.67289057C>T						SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	p.G208G	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	3	687	+		Ovarian(137;0.0563)	208			Helical; (Potential).		A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.624C>T	CCDS42178.1																																																																																				0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1				67	72	0	0	0	1	0	67	72		
MYH1	4619	broad.mit.edu	37	17	10398335	10398335	+	Silent	SNP	C	C	T	rs547325713		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:10398335C>T	ENST00000226207.5	-	37	5473	c.5379G>A	c.(5377-5379)acG>acA	p.T1793T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1793					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTCCTTCACCGTCTGTTCCA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.001					uc002gmo.2		NaN																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5377-5379)ACG>ACA		myosin, heavy chain 1, skeletal muscle, adult							153.0	146.0	148.0					17																	10398335		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398335C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5379G>A	17.37:g.10398335C>T						uc002gml.1_Intron	p.T1793T	NM_005963	NP_005954	P12882	MYH1_HUMAN			37	5473	-			1793			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5379G>A	CCDS11155.1																																																																																				0.557	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		119	12	0	0	0	1	0	119	12		
ALKBH5	54890	broad.mit.edu	37	17	18088053	18088053	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:18088053G>A	ENST00000399138.4	+	1	501	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA|ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	166					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGAGATCCCCGAGTGGGTGCA	0.672																																					Ovarian(166;154 1953 40235 46283 46309)	uc010cpw.2		NaN																	0					0						c.(496-498)GAG>AAG		alkB, alkylation repair homolog 5							27.0	31.0	30.0					17																	18088053		1924	4125	6049	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18088053G>A	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.496G>A	17.37:g.18088053G>A	ENSP00000382091:p.Glu166Lys					uc002gsn.2_RNA|ALKBH5_uc010cpx.2_5'Flank	p.E166K	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN			1	1187	+	all_neural(463;0.228)		166					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.496G>A	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885224	0.51908	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	T	0.30448	1.53	4.84	3.87	0.44632	.	0.488251	0.24583	N	0.037298	T	0.17874	0.0429	L	0.34521	1.04	0.29583	N	0.848999	P	0.36660	0.564	B	0.24541	0.054	T	0.08932	-1.0698	10	0.11794	T	0.64	-6.3751	13.0984	0.59206	0.0774:0.0:0.9226:0.0	.	166	Q6P6C2-2	.	K	166;155;166	ENSP00000382091:E166K	ENSP00000261650:E166K	E	+	1	0	ALKBH5	18028778	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.073000	0.64395	1.254000	0.44035	0.655000	0.94253	GAG		0.672	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3		NM_017758		45	3	0	0	0	1	0	45	3		
GPR179	440435	broad.mit.edu	37	17	36492872	36492872	+	Missense_Mutation	SNP	G	G	A	rs373472248		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:36492872G>A	ENST00000342292.4	-	4	1236	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	406					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGTTCCGGCGGCAGCGGTAG	0.612																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(1216-1218)CGC>TGC		GPR158-like 1 precursor		G	CYS/ARG	1,4295		0,1,2147	12.0	14.0	14.0		1216	5.2	1.0	17		14	0,8532		0,0,4266	no	missense	GPR179	NM_001004334.2	180	0,1,6413	AA,AG,GG		0.0,0.0233,0.0078	probably-damaging	406/2368	36492872	1,12827	2148	4266	6414	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36492872G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1216C>T	17.37:g.36492872G>A	ENSP00000345060:p.Arg406Cys						p.R406C	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			4	1237	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	406			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.1216C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723432	0.68959	2.33E-4	0.0	ENSG00000188888	ENST00000342292	D	0.90261	-2.64	5.19	5.19	0.71726	GPCR, family 3, C-terminal (2);	1.770990	0.03105	N	0.161648	D	0.96543	0.8872	M	0.87180	2.865	0.43360	D	0.995438	D	0.89917	1.0	D	0.83275	0.996	D	0.88509	0.3088	10	0.87932	D	0	.	13.2195	0.59879	0.0:0.0:0.8402:0.1598	.	406	Q6PRD1	GP179_HUMAN	C	406	ENSP00000345060:R406C	ENSP00000345060:R406C	R	-	1	0	GPR179	33746398	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.492000	0.60334	2.709000	0.92574	0.561000	0.74099	CGC		0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				9	11	0	0	0	1	0	9	11		
GSDMA	284110	broad.mit.edu	37	17	38133155	38133155	+	Silent	SNP	C	C	T	rs138595723	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:38133155C>T	ENST00000301659.4	+	12	1300	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	394					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCCTTGGGGACGAGGAGCTGA	0.597													C|||	5	0.000998403	0.0	0.0	5008	,	,		18299	0.0		0.004	False		,,,				2504	0.001					uc002htl.1		NaN																	0					0						c.(1180-1182)GAC>GAT		gasdermin 1		C		4,3884		0,4,1940	116.0	120.0	119.0		1182	-11.2	0.4	17	dbSNP_134	119	23,8263		0,23,4120	no	coding-synonymous	GSDMA	NM_178171.4		0,27,6060	TT,TC,CC		0.2776,0.1029,0.2218		394/446	38133155	27,12147	1944	4143	6087	SO:0001819	synonymous_variant	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133155C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1182C>T	17.37:g.38133155C>T						GSDMA_uc002htm.1_Silent_p.D394D	p.D394D	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN			12	1300	+			394					Q32MC5|Q86VE7|Q8N1M6	Silent	SNP	ENST00000301659.4	37	c.1182C>T	CCDS45669.1																																																																																				0.597	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1		NM_178171		24	104	0	0	0	1	0	24	104		
PTRF	284119	broad.mit.edu	37	17	40556892	40556892	+	Missense_Mutation	SNP	C	C	T	rs534775609		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:40556892C>T	ENST00000357037.5	-	2	1405	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGGCCCTCGCGGATCTTCTT	0.677																																						uc002hzo.2		NaN																	0				breast(1)	1						c.(985-987)CGC>CAC		polymerase I and transcript release factor							77.0	68.0	71.0					17																	40556892		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40556892C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.986G>A	17.37:g.40556892C>T	ENSP00000349541:p.Arg329His					PTRF_uc010wgi.1_Missense_Mutation_p.R311H	p.R329H	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1145	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	329						Missense_Mutation	SNP	ENST00000357037.5	37	c.986G>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278073	0.95459	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.68765	-0.35	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81044	-0.1111	10	0.66056	D	0.02	-15.8152	17.8979	0.88895	0.0:1.0:0.0:0.0	.	311;329	B4DNU9;Q6NZI2	.;PTRF_HUMAN	H	329;284	ENSP00000349541:R329H	ENSP00000349541:R329H	R	-	2	0	PTRF	37810418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.604000	0.82830	2.445000	0.82738	0.557000	0.71058	CGC		0.677	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1		NM_012232		24	66	0	0	0	1	0	24	66		
CDC27	996	broad.mit.edu	37	17	45247383	45247383	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:45247383A>C	ENST00000066544.3	-	4	370	c.277T>G	c.(277-279)Tct>Gct	p.S93A	CDC27_ENST00000527547.1_Missense_Mutation_p.S93A|CDC27_ENST00000446365.2_Missense_Mutation_p.S32A|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.S93A|RP5-867C24.5_ENST00000572193.1_RNA	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	93					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTCCACCAGATAAGATTTGT	0.313																																						uc002ild.3		NaN																	0				lung(2)|breast(2)|ovary(1)	5						c.(277-279)TCT>GCT		cell division cycle protein 27 isoform 2							93.0	103.0	100.0					17																	45247383		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247383A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.277T>G	17.37:g.45247383A>C	ENSP00000066544:p.Ser93Ala					CDC27_uc002ile.3_Missense_Mutation_p.S93A|CDC27_uc002ilf.3_Missense_Mutation_p.S93A|CDC27_uc010wkp.1_Missense_Mutation_p.S32A|CDC27_uc010wkq.1_RNA	p.S93A	NM_001256	NP_001247	P30260	CDC27_HUMAN			4	404	-			93			TPR 1.		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.277T>G	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.772520|5.772520	0.96922|0.96922	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866|ENST00000533415	T;T;T;T;T|.	0.66460|.	-0.21;-0.21;0.16;-0.21;0.95|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Tetratricopeptide-like helical (1);|.	0.129336|.	0.53938|.	D|.	0.000059|.	T|.	0.26231|.	0.0640|.	N|N	0.02539|0.02539	-0.55|-0.55	0.35927|0.35927	D|D	0.8322|0.8322	B;B;B;B|.	0.09022|.	0.0;0.001;0.002;0.001|.	B;B;B;B|.	0.08055|.	0.001;0.002;0.003;0.003|.	T|.	0.39272|.	-0.9622|.	10|.	0.18710|.	T|.	0.47|.	-11.578|-11.578	13.5832|13.5832	0.61915|0.61915	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	32;93;93;93|.	B4DL80;G5EA36;G3V1C4;P30260|.	.;.;.;CDC27_HUMAN|.	A|X	93;93;32;93;93|43	ENSP00000066544:S93A;ENSP00000434614:S93A;ENSP00000392802:S32A;ENSP00000437339:S93A;ENSP00000432105:S93A|.	ENSP00000066544:S93A|.	S|Y	-|-	1|3	0|2	CDC27|CDC27	42602382|42602382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.998000|3.998000	0.57024|0.57024	2.152000|2.152000	0.67230|0.67230	0.533000|0.533000	0.62120|0.62120	TCT|TAT		0.313	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2				8	142	0	0	0	1	0	8	142		
CDK5RAP3	80279	broad.mit.edu	37	17	46053301	46053301	+	Silent	SNP	G	G	A	rs374509909		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:46053301G>A	ENST00000338399.4	+	8	826	c.720G>A	c.(718-720)gaG>gaA	p.E240E	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Silent_p.E265E	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	240					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CGGTGTACGAGTGGAGGACAG	0.587																																						uc002imr.2		NaN																	0					0						c.(718-720)GAG>GAA		CDK5 regulatory subunit associated protein 3		G		1,4207		0,1,2103	81.0	81.0	81.0		720	0.9	1.0	17		81	0,8456		0,0,4228	no	coding-synonymous	CDK5RAP3	NM_176096.1		0,1,6331	AA,AG,GG		0.0,0.0238,0.0079		240/507	46053301	1,12663	2104	4228	6332	SO:0001819	synonymous_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46053301G>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.720G>A	17.37:g.46053301G>A						CDK5RAP3_uc010wlc.1_Silent_p.E260E|CDK5RAP3_uc002imq.1_Silent_p.E15E|CDK5RAP3_uc002imu.2_Silent_p.E84E|CDK5RAP3_uc002ims.2_Silent_p.E153E|CDK5RAP3_uc002imv.2_Silent_p.E84E|CDK5RAP3_uc002imw.2_Silent_p.E84E|CDK5RAP3_uc002imx.2_Silent_p.E15E	p.E240E	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN			8	804	+			240					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	c.720G>A	CCDS42356.1																																																																																				0.587	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1		NM_176096		46	84	0	0	0	1	0	46	84		
TRIM25	7706	broad.mit.edu	37	17	54969173	54969173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:54969173G>T	ENST00000316881.4	-	9	1830	c.1781C>A	c.(1780-1782)gCc>gAc	p.A594D	TRIM25_ENST00000573108.1_5'Flank|TRIM25_ENST00000537230.1_Missense_Mutation_p.A594D|RP11-670E13.5_ENST00000574826.1_RNA|MIR3614_ENST00000581261.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	594	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GACCTTGTCGGCAACAGCGAA	0.542																																						uc002iut.2		NaN																	0				lung(1)|breast(1)|skin(1)	3						c.(1780-1782)GCC>GAC		tripartite motif-containing 25							71.0	59.0	63.0					17																	54969173		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969173G>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1781C>A	17.37:g.54969173G>T	ENSP00000323889:p.Ala594Asp					TRIM25_uc010dcj.2_Missense_Mutation_p.A386D	p.A594D	NM_005082	NP_005073	Q14258	TRI25_HUMAN			9	1841	-	Breast(9;6.15e-08)		594			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1781C>A	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312450	0.40895	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.68765	-0.35;-0.35	4.66	2.62	0.31277	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.532730	0.03889	N	0.278303	T	0.58722	0.2142	N	0.16130	0.375	0.09310	N	1	P	0.48998	0.918	P	0.49853	0.624	T	0.49908	-0.8889	10	0.51188	T	0.08	.	5.4407	0.16507	0.076:0.2589:0.5318:0.1333	.	594	Q14258	TRI25_HUMAN	D	594	ENSP00000323889:A594D;ENSP00000445961:A594D	ENSP00000323889:A594D	A	-	2	0	TRIM25	52324172	0.022000	0.18835	0.000000	0.03702	0.735000	0.41995	1.932000	0.40143	0.383000	0.24910	0.561000	0.74099	GCC		0.542	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1		NM_005082		25	28	1	0	4.4004e-07	1	4.45217e-07	25	28		
LPO	4025	broad.mit.edu	37	17	56321382	56321382	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:56321382C>G	ENST00000262290.4	+	3	420	c.104C>G	c.(103-105)tCc>tGc	p.S35C	LPO_ENST00000543544.1_Intron|LPO_ENST00000582328.1_Intron|LPO_ENST00000421678.2_Intron	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	35					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTGCCATCTCCGATACTGTG	0.542																																						uc002ivt.2		NaN																	0				ovary(1)|breast(1)	2						c.(103-105)TCC>TGC		lactoperoxidase isoform 1 preproprotein							146.0	109.0	122.0					17																	56321382		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56321382C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.104C>G	17.37:g.56321382C>G	ENSP00000262290:p.Ser35Cys					LPO_uc010dco.2_Missense_Mutation_p.S35C|LPO_uc010wnr.1_Intron|LPO_uc010wns.1_Intron|LPO_uc010dcp.2_Intron	p.S35C	NM_006151	NP_006142	P22079	PERL_HUMAN			3	420	+			35					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.104C>G	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324843	0.24080	.	.	ENSG00000167419	ENST00000262290	T	0.70631	-0.5	5.36	0.679	0.17975	.	2.205680	0.01687	N	0.026473	T	0.65523	0.2699	L	0.48362	1.52	0.09310	N	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.46735	-0.9170	10	0.38643	T	0.18	.	8.2071	0.31463	0.2814:0.4439:0.2747:0.0	.	35	P22079	PERL_HUMAN	C	35	ENSP00000262290:S35C	ENSP00000262290:S35C	S	+	2	0	LPO	53676381	0.017000	0.18338	0.007000	0.13788	0.066000	0.16364	0.783000	0.26802	0.297000	0.22615	0.655000	0.94253	TCC		0.542	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1				11	32	0	0	0	1	0	11	32		
LPO	4025	broad.mit.edu	37	17	56342246	56342246	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:56342246G>A	ENST00000262290.4	+	10	1746	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	LPO_ENST00000543544.1_Missense_Mutation_p.R418H|LPO_ENST00000582328.1_Missense_Mutation_p.R394H|LPO_ENST00000421678.2_Missense_Mutation_p.R394H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	477					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGTATGTTCCGCCTGGATGAG	0.512																																						uc002ivt.2		NaN																	0				ovary(1)|breast(1)	2						c.(1429-1431)CGC>CAC		lactoperoxidase isoform 1 preproprotein							101.0	83.0	89.0					17																	56342246		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342246G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1430G>A	17.37:g.56342246G>A	ENSP00000262290:p.Arg477His					LPO_uc010wns.1_Missense_Mutation_p.R418H|LPO_uc010dcp.2_Missense_Mutation_p.R394H|LPO_uc010dcq.2_Missense_Mutation_p.R148H|LPO_uc010dcr.2_Missense_Mutation_p.R40H	p.R477H	NM_006151	NP_006142	P22079	PERL_HUMAN			10	1746	+			477					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1430G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918807	0.92249	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.74737	-0.87;-0.87;-0.87	6.17	6.17	0.99709	.	0.048944	0.85682	D	0.000000	D	0.90800	0.7111	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.92133	0.5714	10	0.87932	D	0	-23.445	19.8676	0.96824	0.0:0.0:1.0:0.0	.	394;477	E7EMJ3;P22079	.;PERL_HUMAN	H	477;394;418;222	ENSP00000262290:R477H;ENSP00000400245:R394H;ENSP00000445344:R418H	ENSP00000262290:R477H	R	+	2	0	LPO	53697245	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.833000	0.99426	2.941000	0.99782	0.655000	0.94253	CGC		0.512	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1				32	43	0	0	0	1	0	32	43		
GPR142	350383	broad.mit.edu	37	17	72368159	72368159	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:72368159C>T	ENST00000335666.4	+	4	857	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	270						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGGGCCGCCTCGTCCCCAGGC	0.657																																						uc010wqy.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(808-810)TCG>TTG		G protein-coupled receptor 142							53.0	44.0	47.0					17																	72368159		2201	4300	6501	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368159C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.809C>T	17.37:g.72368159C>T	ENSP00000335158:p.Ser270Leu					GPR142_uc010wqx.1_Missense_Mutation_p.S182L	p.S270L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	809	+			270			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.809C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117994	0.56505	.	.	ENSG00000257008	ENST00000335666	T	0.35236	1.32	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.175811	0.50627	D	0.000101	T	0.59032	0.2164	M	0.64997	1.995	0.39246	D	0.96394	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.59354	-0.7470	10	0.45353	T	0.12	-11.2329	18.8605	0.92270	0.0:1.0:0.0:0.0	.	270;1232	Q7Z601;Q8NGB0	GP142_HUMAN;.	L	270	ENSP00000335158:S270L	ENSP00000335158:S270L	S	+	2	0	GPR142	69879754	1.000000	0.71417	0.106000	0.21319	0.530000	0.34684	4.008000	0.57103	2.708000	0.92522	0.650000	0.86243	TCG		0.657	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1		NM_181790		23	22	0	0	0	1	0	23	22		
PRTN3	5657	broad.mit.edu	37	19	846267	846267	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:846267G>A	ENST00000234347.5	+	4	536	c.490G>A	c.(490-492)Gac>Aac	p.D164N	PRTN3_ENST00000544537.2_Missense_Mutation_p.D123N	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGCCCACGACCCCCCAGC	0.677																																						uc002lqa.1		NaN																	0				ovary(1)	1						c.(490-492)GAC>AAC		myeloblastin							47.0	32.0	37.0					19																	846267		2193	4292	6485	SO:0001583	missense	5657				collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:846267G>A		CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"""myeloblastin"", ""serine proteinase, neutrophil"", ""Wegener granulomatosis autoantigen"""	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.490G>A	19.37:g.846267G>A	ENSP00000234347:p.Asp164Asn						p.D164N	NM_002777	NP_002768	P24158	PRTN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	514	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	164			Peptidase S1.		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP	ENST00000234347.5	37	c.490G>A	CCDS32860.1	.	.	.	.	.	.	.	.	.	.	G	5.977	0.364175	0.11296	.	.	ENSG00000196415	ENST00000234347;ENST00000544537	D	0.88201	-2.35	3.0	-6.01	0.02199	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.70979	0.3286	N	0.17631	0.505	0.09310	N	1	B	0.33807	0.426	B	0.25614	0.062	T	0.62353	-0.6872	9	0.18710	T	0.47	.	4.1581	0.10270	0.1166:0.5414:0.1953:0.1467	.	164	P24158	PRTN3_HUMAN	N	164;123	ENSP00000234347:D164N	ENSP00000234347:D164N	D	+	1	0	PRTN3	797267	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.201000	0.03026	-0.904000	0.03876	0.195000	0.17529	GAC		0.677	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457888.2		NM_002777		8	8	0	0	0	1	0	8	8		
PTPRS	5802	broad.mit.edu	37	19	5212395	5212395	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:5212395G>A	ENST00000587303.1	-	30	4821	c.4722C>T	c.(4720-4722)gtC>gtT	p.V1574V	PTPRS_ENST00000262963.6_Silent_p.V1554V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Silent_p.V1127V|PTPRS_ENST00000588012.1_Silent_p.V1536V|PTPRS_ENST00000353284.2_Silent_p.V1127V|PTPRS_ENST00000357368.4_Silent_p.V1574V|PTPRS_ENST00000372412.4_Silent_p.V1575V|PTPRS_ENST00000348075.2_Silent_p.V1536V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1574	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGCAGGTCTTGACTCTCCGCA	0.662																																						uc002mbv.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(4720-4722)GTC>GTT		protein tyrosine phosphatase, receptor type,							64.0	46.0	52.0					19																	5212395		2201	4300	6501	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5212395G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4722C>T	19.37:g.5212395G>A						PTPRS_uc002mbu.1_Silent_p.V1143V|PTPRS_uc010xin.1_Silent_p.V1116V|PTPRS_uc002mbw.2_Silent_p.V1536V|PTPRS_uc002mbx.2_Silent_p.V1131V|PTPRS_uc002mby.2_Silent_p.V1127V	p.V1574V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	31	4956	-			1574			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.4722C>T	CCDS45930.1																																																																																				0.662	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2				6	27	0	0	0	1	0	6	27		
MUC16	94025	broad.mit.edu	37	19	9076790	9076790	+	Silent	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:9076790A>T	ENST00000397910.4	-	3	10859	c.10656T>A	c.(10654-10656)acT>acA	p.T3552T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3553	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGTGTGGTAGTTGAGATTG	0.547																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10654-10656)ACT>ACA		mucin 16							253.0	244.0	247.0					19																	9076790		2133	4237	6370	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076790A>T	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.10656T>A	19.37:g.9076790A>T							p.T3552T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10860	-			3553			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.10656T>A	CCDS54212.1																																																																																				0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		90	131	0	0	0	1	0	90	131		
CACNA1A	773	broad.mit.edu	37	19	13409644	13409644	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:13409644G>A	ENST00000360228.5	-	19	2802	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R936W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	936					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCCCTGCCGGTGCACGTGC	0.781																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(2806-2808)CGG>TGG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						6.0	6.0	6.0					19																	13409644		1622	3481	5103	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409644G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2803C>T	19.37:g.13409644G>A	ENSP00000353362:p.Arg935Trp					CACNA1A_uc010dzc.2_Missense_Mutation_p.R461W|CACNA1A_uc002mwy.3_Missense_Mutation_p.R935W|CACNA1A_uc010xne.1_Missense_Mutation_p.R464W	p.R936W	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	3042	-			936			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2806C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	9.158	1.017951	0.19355	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96073	-3.9	3.79	3.79	0.43588	.	3.479190	0.01288	N	0.009920	D	0.96608	0.8893	L	0.43152	1.355	0.37886	D	0.930557	D;D;D	0.71674	0.997;0.998;0.994	P;P;B	0.59424	0.617;0.857;0.353	D	0.89205	0.3560	10	0.87932	D	0	.	13.1439	0.59450	0.0:0.0:1.0:0.0	.	936;939;935	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	W	935;939;936;936	ENSP00000353362:R935W	ENSP00000317661:R936W	R	-	1	2	CACNA1A	13270644	0.963000	0.33076	0.423000	0.26634	0.015000	0.08874	2.277000	0.43417	1.671000	0.50874	0.462000	0.41574	CGG		0.781	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		16	20	0	0	0	1	0	16	20		
ZNF257	113835	broad.mit.edu	37	19	22272043	22272043	+	Silent	SNP	C	C	T	rs374023957		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:22272043C>T	ENST00000594947.1	+	4	1635	c.1491C>T	c.(1489-1491)aaC>aaT	p.N497N		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCCTTTAACCGGTCTTCAC	0.393																																						uc010ecx.2		NaN																	0					0						c.(1489-1491)AAC>AAT		zinc finger protein 257		C		0,4224		0,0,2112	42.0	46.0	45.0		1491	-1.0	0.0	19		45	1,8501		0,1,4250	no	coding-synonymous	ZNF257	NM_033468.2		0,1,6362	TT,TC,CC		0.0118,0.0,0.0079		497/564	22272043	1,12725	2112	4251	6363	SO:0001819	synonymous_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22272043C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1491C>T	19.37:g.22272043C>T						ZNF257_uc010ecy.2_Silent_p.N465N	p.N497N	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1660	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	497			C2H2-type 12.		B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	c.1491C>T	CCDS46030.1																																																																																				0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1				32	35	0	0	0	1	0	32	35		
ZNF792	126375	broad.mit.edu	37	19	35451871	35451871	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:35451871T>C	ENST00000404801.1	-	2	447	c.61A>G	c.(61-63)Att>Gtt	p.I21V	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGTAAATGGTCACGTCC	0.547																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NaN																	0					0						c.(61-63)ATT>GTT		zinc finger protein 792							190.0	172.0	178.0					19																	35451871		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35451871T>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.61A>G	19.37:g.35451871T>C	ENSP00000385099:p.Ile21Val						p.I21V	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		2	448	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		21			KRAB.		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.61A>G	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	t	5.555	0.287324	0.10513	.	.	ENSG00000180884	ENST00000404801	T	0.00824	5.65	2.6	0.436	0.16549	Krueppel-associated box (4);	.	.	.	.	T	0.00384	0.0012	N	0.01454	-0.855	0.20703	N	0.999865	B	0.20164	0.042	B	0.20767	0.031	T	0.44832	-0.9302	9	0.02654	T	1	.	2.0957	0.03667	0.2568:0.1513:0.0:0.592	.	21	Q3KQV3	ZN792_HUMAN	V	21	ENSP00000385099:I21V	ENSP00000385099:I21V	I	-	1	0	ZNF792	40143711	0.000000	0.05858	0.989000	0.46669	0.992000	0.81027	0.034000	0.13776	0.018000	0.15052	0.460000	0.39030	ATT		0.547	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1		NM_175872		76	102	0	0	0	1	0	76	102		
HPN	3249	broad.mit.edu	37	19	35551678	35551678	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:35551678C>T	ENST00000262626.2	+	9	1593	c.768C>T	c.(766-768)aaC>aaT	p.N256N	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.N98N|HPN_ENST00000392226.1_Silent_p.N256N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	AGAACAGCAACGATATTGCCC	0.637																																						uc002nxq.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(766-768)AAC>AAT		hepsin	Coagulation factor VIIa(DB00036)						109.0	98.0	101.0					19																	35551678		2203	4300	6503	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35551678C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.768C>T	19.37:g.35551678C>T						HPN_uc002nxr.1_Silent_p.N256N|HPN_uc002nxs.1_Silent_p.N98N|HPN_uc010xsh.1_Silent_p.N225N|HPN_uc002nxt.1_Silent_p.N140N|LOC100128675_uc010xsi.1_Intron	p.N256N	NM_002151	NP_002142	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1013	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		256			Extracellular (Potential).|Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.768C>T	CCDS32993.1																																																																																				0.637	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1		NM_002151		19	105	0	0	0	1	0	19	105		
TIMM50	92609	broad.mit.edu	37	19	39971574	39971574	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:39971574G>A	ENST00000607714.1	+	1	103	c.81G>A	c.(79-81)gcG>gcA	p.A27A	TIMM50_ENST00000599794.1_Silent_p.A27A|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000314349.4_Silent_p.A130A			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	27					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAGGTTGGCGACGCCGCCCC	0.706																																						uc002olu.1		NaN																	0				ovary(1)	1						c.(388-390)GCG>GCA		translocase of inner mitochondrial membrane 50							5.0	7.0	6.0					19																	39971574		1938	3981	5919	SO:0001819	synonymous_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971574G>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.81G>A	19.37:g.39971574G>A						TIMM50_uc002olt.1_RNA	p.A130A	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	523	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		27					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37	c.390G>A																																																																																					0.706	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1		NM_001001563		9	23	0	0	0	1	0	9	23		
MARK4	57787	broad.mit.edu	37	19	45783636	45783636	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:45783636G>A	ENST00000262891.4	+	11	1342	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V	MARK4_ENST00000300843.4_Silent_p.V337V	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	337	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCAGAGGTGATGGTGGGTA	0.507																																						uc002pbb.1		NaN																	0				central_nervous_system(2)|large_intestine(1)	3						c.(1009-1011)GTG>GTA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							110.0	111.0	111.0					19																	45783636		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45783636G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1011G>A	19.37:g.45783636G>A						MARK4_uc002paz.1_Missense_Mutation_p.D75N|MARK4_uc002pba.1_Silent_p.V337V|MARK4_uc002pbc.1_Silent_p.V203V	p.V337V			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	11	1016	+		all_neural(266;0.224)|Ovarian(192;0.231)	337			UBA.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.1011G>A	CCDS56097.1																																																																																				0.507	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1		NM_031417		115	148	0	0	0	1	0	115	148		
ZNF649	65251	broad.mit.edu	37	19	52394437	52394437	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:52394437G>C	ENST00000354957.3	-	5	1236	c.952C>G	c.(952-954)Cat>Gat	p.H318D	ZNF649_ENST00000600738.1_Missense_Mutation_p.H290D|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGCATGTATGAGGCTTCTCT	0.453																																						uc002pxy.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(952-954)CAT>GAT		zinc finger protein 649							137.0	110.0	120.0					19																	52394437		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394437G>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.952C>G	19.37:g.52394437G>C	ENSP00000347043:p.His318Asp					ZNF577_uc010ydf.1_5'Flank	p.H318D	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1220	-		all_neural(266;0.0602)	318			C2H2-type 6.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.952C>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	G	4.298	0.054479	0.08291	.	.	ENSG00000198093	ENST00000354957	T	0.20598	2.06	2.75	0.492	0.16872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23965	0.0580	M	0.79926	2.475	0.09310	N	1	B	0.28082	0.2	B	0.23419	0.046	T	0.23332	-1.0191	9	0.87932	D	0	.	6.1782	0.20455	0.7543:0.0:0.2457:0.0	.	318	Q9BS31	ZN649_HUMAN	D	318	ENSP00000347043:H318D	ENSP00000347043:H318D	H	-	1	0	ZNF649	57086249	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	2.590000	0.46154	-0.145000	0.11294	-0.655000	0.03904	CAT		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1		NM_023074		27	37	0	0	0	1	0	27	37		
BRSK1	84446	broad.mit.edu	37	19	55815073	55815073	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:55815073C>T	ENST00000309383.1	+	12	1442	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	BRSK1_ENST00000326848.7_Missense_Mutation_p.R84C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R405C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	389					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATGCTGAGCCGTCACGGGAA	0.612																																						uc002qkg.2		NaN																	0				ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1165-1167)CGT>TGT		BR serine/threonine kinase 1							63.0	72.0	69.0					19																	55815073		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55815073C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1165C>T	19.37:g.55815073C>T	ENSP00000310649:p.Arg389Cys					BRSK1_uc002qkf.2_Missense_Mutation_p.R405C|BRSK1_uc002qkh.2_Missense_Mutation_p.R84C	p.R389C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1442	+		Renal(1328;0.245)	389					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1165C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	19.76	3.887209	0.72410	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73152	-0.72;1.65	3.96	2.88	0.33553	.	0.000000	0.64402	D	0.000001	T	0.82089	0.4961	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.83496	0.0072	10	0.72032	D	0.01	.	11.6295	0.51166	0.1862:0.8138:0.0:0.0	.	389;405	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	389;84;84	ENSP00000310649:R389C;ENSP00000320853:R84C	ENSP00000310649:R389C	R	+	1	0	BRSK1	60506885	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.167000	0.42415	0.965000	0.38133	0.561000	0.74099	CGT		0.612	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1		NM_032430		61	82	0	0	0	1	0	61	82		
LPIN1	23175	broad.mit.edu	37	2	11911614	11911614	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:11911614G>A	ENST00000256720.2	+	4	498	c.405G>A	c.(403-405)acG>acA	p.T135T	LPIN1_ENST00000396098.1_Silent_p.T141T|LPIN1_ENST00000396099.1_Silent_p.T141T|LPIN1_ENST00000449576.2_Silent_p.T184T|LPIN1_ENST00000425416.2_Silent_p.T141T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	135					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCCCAGCACGCCAGCCCAAG	0.567																																						uc010yjn.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(403-405)ACG>ACA		lipin 1							55.0	56.0	55.0					2																	11911614		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11911614G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.405G>A	2.37:g.11911614G>A						LPIN1_uc010yjm.1_Silent_p.T184T|LPIN1_uc002rbt.2_Silent_p.T135T|LPIN1_uc002rbs.2_Silent_p.T135T	p.T135T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	5	679	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		135					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.405G>A	CCDS1682.1																																																																																				0.567	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693		12	61	0	0	0	1	0	12	61		
GFPT1	2673	broad.mit.edu	37	2	69575328	69575328	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:69575328C>T	ENST00000357308.4	-	11	1162	c.984G>A	c.(982-984)caG>caA	p.Q328Q	GFPT1_ENST00000361060.5_Silent_p.Q310Q	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	328	Isomerase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GGAGTTCCATCTGGAGTGTTT	0.428																																						uc002sfh.2		NaN																	0				skin(1)	1						c.(928-930)CAG>CAA		glucosamine-fructose-6-phosphate							168.0	155.0	160.0					2																	69575328		2203	4300	6503	SO:0001819	synonymous_variant	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69575328C>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.984G>A	2.37:g.69575328C>T							p.Q310Q	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			10	1109	-			328					Q53QE6|Q9BXF8	Silent	SNP	ENST00000357308.4	37	c.930G>A	CCDS58713.1																																																																																				0.428	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					75	73	0	0	0	1	0	75	73		
ANKRD36	375248	broad.mit.edu	37	2	97779652	97779652	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:97779652A>G	ENST00000461153.2	+	1	420	c.176A>G	c.(175-177)aAt>aGt	p.N59S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.N59S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	59										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATGACGCCAATAAGAGAGAC	0.527																																						uc010yva.1		NaN																	0					0						c.(175-177)AAT>AGT		ankyrin repeat domain 36							54.0	49.0	50.0					2																	97779652		1888	4118	6006	SO:0001583	missense	375248							g.chr2:97779652A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.176A>G	2.37:g.97779652A>G	ENSP00000419530:p.Asn59Ser					ANKRD36_uc002sxn.2_Missense_Mutation_p.N59S|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.N59S|ANKRD36_uc002sxp.3_RNA	p.N59S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			1	420	+			59			ANK 1.		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.176A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870235	0.33069	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000289105;ENST00000455519	T;T	0.71222	-0.55;-0.55	0.93	0.93	0.19454	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.77164	0.4090	M	0.80332	2.49	0.18873	N	0.999989	P;P;P	0.51351	0.944;0.927;0.815	P;P;B	0.56563	0.458;0.801;0.182	T	0.64694	-0.6347	9	0.66056	D	0.02	.	4.1416	0.10196	1.0:0.0:0.0:0.0	.	59;59;59	A6QL64;F2Z332;A6QL64-4	AN36A_HUMAN;.;.	S	59	ENSP00000419530:N59S;ENSP00000391950:N59S	ENSP00000289105:N59S	N	+	2	0	ANKRD36	97143379	0.006000	0.16342	0.001000	0.08648	0.004000	0.04260	1.602000	0.36783	0.680000	0.31366	0.352000	0.21897	AAT		0.527	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				30	27	0	0	0	1	0	30	27		
MYO7B	4648	broad.mit.edu	37	2	128380819	128380819	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:128380819G>A	ENST00000409816.2	+	27	3642	c.3610G>A	c.(3610-3612)Gcc>Acc	p.A1204T	MYO7B_ENST00000409090.1_Missense_Mutation_p.A57T|MYO7B_ENST00000389524.4_Missense_Mutation_p.A1204T|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1204T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1204	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGTCATCTTGGCCACTGGAGA	0.577																																						uc002top.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(3610-3612)GCC>ACC		myosin VIIB							79.0	89.0	86.0					2																	128380819		2097	4219	6316	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128380819G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3610G>A	2.37:g.128380819G>A	ENSP00000386461:p.Ala1204Thr					MYO7B_uc002toq.1_Missense_Mutation_p.A57T|MYO7B_uc002tor.1_Missense_Mutation_p.A57T	p.A1204T	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	28	3663	+	Colorectal(110;0.1)		1204			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3610G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.200924	0.38905	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	4.61	1.05	0.20165	Band 4.1 domain (1);FERM domain (1);	0.361255	0.29417	N	0.012218	T	0.51702	0.1690	L	0.44542	1.39	0.26643	N	0.972247	B	0.28820	0.224	B	0.18263	0.021	T	0.27434	-1.0074	10	0.23891	T	0.37	.	4.2016	0.10469	0.3604:0.1813:0.4583:0.0	.	1204	Q6PIF6	MYO7B_HUMAN	T	1204;1204;57;1204;57;57	ENSP00000374175:A1204T;ENSP00000415090:A1204T;ENSP00000386461:A1204T;ENSP00000404927:A57T;ENSP00000386850:A57T	ENSP00000272666:A57T	A	+	1	0	MYO7B	128097289	1.000000	0.71417	0.172000	0.22920	0.489000	0.33432	3.433000	0.52834	0.325000	0.23359	0.491000	0.48974	GCC		0.577	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001		12	43	0	0	0	1	0	12	43		
XIRP2	129446	broad.mit.edu	37	2	168104956	168104956	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:168104956G>A	ENST00000409195.1	+	9	7143	c.7054G>A	c.(7054-7056)Gat>Aat	p.D2352N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2130N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2352N|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2177					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTCCAGTAGATGAGAAATC	0.473																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7054-7056)GAT>AAT		xin actin-binding repeat containing 2 isoform 1							123.0	128.0	126.0					2																	168104956		1901	4109	6010	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104956G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7054G>A	2.37:g.168104956G>A	ENSP00000386840:p.Asp2352Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2177N|XIRP2_uc010fpq.2_Missense_Mutation_p.D2130N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.D2352N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7072	+			2177			Pro-rich.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7054G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688493	0.48097	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02656	4.21;4.21;4.21	6.17	6.17	0.99709	.	0.731505	0.13928	N	0.353121	T	0.09335	0.0230	M	0.67953	2.075	0.32182	N	0.580226	P;D;D	0.56746	0.799;0.977;0.977	B;P;P	0.50659	0.205;0.647;0.647	T	0.01424	-1.1358	10	0.51188	T	0.08	-12.1061	15.1685	0.72850	0.0:0.1408:0.8592:0.0	.	2177;2177;2130	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2352;2352;2130	ENSP00000386840:D2352N;ENSP00000295237:D2352N;ENSP00000387255:D2130N	ENSP00000295237:D2352N	D	+	1	0	XIRP2	167813202	0.999000	0.42202	0.998000	0.56505	0.805000	0.45488	1.495000	0.35627	2.941000	0.99782	0.655000	0.94253	GAT		0.473	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		47	131	0	0	0	1	0	47	131		
TTN	7273	broad.mit.edu	37	2	179579099	179579099	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:179579099G>A	ENST00000591111.1	-	89	25675	c.25451C>T	c.(25450-25452)cCa>cTa	p.P8484L	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7557L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P8801L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12652	Ig-like 67.				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)			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)			AGCATTGGCTGGTTCCACTCT	0.403																																						uc010zfg.1		NaN																	0				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.(22669-22671)CCA>CTA		titin isoform N2-A							111.0	107.0	109.0					2																	179579099		1877	4118	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579099G>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.25451C>T	2.37:g.179579099G>A	ENSP00000465570:p.Pro8484Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4218L	p.P7557L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	22894	-			8484					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.22670C>T		.	.	.	.	.	.	.	.	.	.	G	11.77	1.736285	0.30774	.	.	ENSG00000155657	ENST00000342992	T	0.39592	1.07	5.96	4.19	0.49359	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35770	0.0943	L	0.39147	1.195	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	9	0.87932	D	0	.	12.7964	0.57562	0.1316:0.0:0.8684:0.0	.	8484	Q8WZ42	TITIN_HUMAN	L	7557	ENSP00000343764:P7557L	ENSP00000343764:P7557L	P	-	2	0	TTN	179287344	1.000000	0.71417	0.997000	0.53966	0.321000	0.28281	3.536000	0.53582	0.874000	0.35823	0.655000	0.94253	CCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		65	32	0	0	0	1	0	65	32		
FAM171B	165215	broad.mit.edu	37	2	187626350	187626350	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:187626350A>T	ENST00000304698.5	+	8	1484	c.1281A>T	c.(1279-1281)ttA>ttT	p.L427F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	427						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGTCGCAGTTATTCAATGCCA	0.383																																						uc002ups.2		NaN																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(1279-1281)TTA>TTT		KIAA1946							87.0	90.0	89.0					2																	187626350		2203	4298	6501	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626350A>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1281A>T	2.37:g.187626350A>T	ENSP00000304108:p.Leu427Phe					FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.2_5'Flank	p.L427F	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	1393	+			427			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1281A>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.402848	0.25291	.	.	ENSG00000144369	ENST00000304698	T	0.33654	1.4	5.26	-2.88	0.05682	.	0.458945	0.23552	N	0.046951	T	0.19846	0.0477	L	0.40543	1.245	0.36320	D	0.858192	B	0.22541	0.071	B	0.22152	0.038	T	0.31475	-0.9942	10	0.08179	T	0.78	-3.6684	7.0306	0.24965	0.3559:0.2373:0.4068:0.0	.	427	Q6P995	F171B_HUMAN	F	427	ENSP00000304108:L427F	ENSP00000304108:L427F	L	+	3	2	FAM171B	187334595	0.485000	0.25972	0.965000	0.40720	0.967000	0.64934	-0.238000	0.08977	-0.393000	0.07739	-0.250000	0.11733	TTA		0.383	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454		52	46	0	0	0	1	0	52	46		
SF3B1	23451	broad.mit.edu	37	2	198281605	198281605	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr2:198281605C>T	ENST00000335508.6	-	6	617	c.526G>A	c.(526-528)Gct>Act	p.A176T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	176					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAGCTTTAGCTTTTTCTGCT	0.423			Mis		myelodysplastic syndrome																																	uc002uue.2		NaN		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(526-528)GCT>ACT		splicing factor 3b, subunit 1 isoform 1							148.0	144.0	146.0					2																	198281605		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198281605C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.526G>A	2.37:g.198281605C>T	ENSP00000335321:p.Ala176Thr					SF3B1_uc010fsk.1_RNA	p.A176T	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		6	574	-			176					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.526G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152993	0.57259	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.66939	2.045	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.61402	-0.7070	9	0.15066	T	0.55	.	19.0485	0.93032	0.0:1.0:0.0:0.0	.	176	O75533	SF3B1_HUMAN	T	176	.	ENSP00000335321:A176T	A	-	1	0	SF3B1	197989850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.562000	0.82300	2.736000	0.93811	0.579000	0.79373	GCT		0.423	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2				54	125	0	0	0	1	0	54	125		
SERINC3	10955	broad.mit.edu	37	20	43142655	43142655	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:43142655T>C	ENST00000342374.4	-	2	223	c.66A>G	c.(64-66)tcA>tcG	p.S22S	SERINC3_ENST00000255175.1_Silent_p.S22S|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	22					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ACAGCAAACATGAGGCACCGC	0.488																																						uc002xme.2		NaN																	0				skin(3)	3						c.(64-66)TCA>TCG		tumor differentially expressed protein 1							151.0	127.0	135.0					20																	43142655		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43142655T>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.66A>G	20.37:g.43142655T>C						SERINC3_uc002xmf.1_Silent_p.S22S|SERINC3_uc010ggs.1_Silent_p.S15S|SERINC3_uc010zwp.1_5'UTR	p.S22S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		2	200	-		Myeloproliferative disorder(115;0.0122)	22			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.66A>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575178	0.28092	.	.	ENSG00000132824	ENST00000538937	.	.	.	5.34	-2.83	0.05769	.	.	.	.	.	T	0.27900	0.0687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18335	-1.0340	5	0.10902	T	0.67	-9.8406	2.5465	0.04738	0.1043:0.2928:0.3204:0.2825	.	.	.	.	V	8	.	ENSP00000440290:I8V	I	-	1	0	SERINC3	42576069	0.002000	0.14202	0.875000	0.34327	0.995000	0.86356	-1.632000	0.02024	-0.486000	0.06744	0.460000	0.39030	ATT		0.488	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		84	49	0	0	0	1	0	84	49		
LAMA5	3911	broad.mit.edu	37	20	60913289	60913289	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr20:60913289C>T	ENST00000252999.3	-	13	1821	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	585	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACCACTCACACTGGCAGAGAG	0.672																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1753-1755)CAG>CAA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						30.0	28.0	29.0					20																	60913289		2183	4292	6475	SO:0001630	splice_region_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60913289C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1756+1G>A	20.37:g.60913289C>T							p.Q585Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		13	1822	-	Breast(26;1.57e-08)		585			Laminin EGF-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.1755G>A	CCDS33502.1																																																																																				0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	Silent	18	23	0	0	0	1	0	18	23		
RIPK4	54101	broad.mit.edu	37	21	43176836	43176836	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:43176836A>C	ENST00000352483.2	-	2	387	c.323T>G	c.(322-324)cTg>cGg	p.L108R	RIPK4_ENST00000332512.3_Missense_Mutation_p.L108R|RIPK4_ENST00000542057.1_Missense_Mutation_p.L45R|RIPK4_ENST00000544709.1_Missense_Mutation_p.L45R			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCGAAGCCAGCAGCTTTTC	0.602																																						uc002yzn.1		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(322-324)CTG>CGG		ankyrin repeat domain 3							81.0	76.0	78.0					21																	43176836		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43176836A>C	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.323T>G	21.37:g.43176836A>C	ENSP00000330161:p.Leu108Arg						p.L108R	NM_020639	NP_065690	P57078	RIPK4_HUMAN			2	371	-			108					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.323T>G		.	.	.	.	.	.	.	.	.	.	A	22.7	4.325700	0.81580	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.97	4.97	0.65823	.	0.000000	0.45361	D	0.000375	D	0.87188	0.6115	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90314	0.4339	10	0.87932	D	0	-21.2695	14.1208	0.65186	1.0:0.0:0.0:0.0	.	108	P57078-2	.	R	108;108;45;45	ENSP00000332454:L108R;ENSP00000330161:L108R;ENSP00000441754:L45R;ENSP00000442901:L45R	ENSP00000332454:L108R	L	-	2	0	RIPK4	42049905	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.040000	0.93783	1.995000	0.58328	0.460000	0.39030	CTG		0.602	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639		49	50	0	0	0	1	0	49	50		
PCBP3	54039	broad.mit.edu	37	21	47349884	47349884	+	Silent	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr21:47349884C>G	ENST00000400314.1	+	12	1109	c.771C>G	c.(769-771)ctC>ctG	p.L257L	PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400309.1_Silent_p.L256L|PCBP3_ENST00000400310.1_Silent_p.L257L|PCBP3_ENST00000449640.1_Silent_p.L257L|PCBP3_ENST00000400304.1_Silent_p.L247L|PCBP3_ENST00000400308.1_Silent_p.L231L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	257					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTCCTCCCCTCGGACAGACCA	0.552																																						uc002zhq.1		NaN																	0				skin(1)	1						c.(769-771)CTC>CTG		poly(rC) binding protein 3 isoform 1							136.0	151.0	146.0					21																	47349884		2022	4191	6213	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47349884C>G	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.771C>G	21.37:g.47349884C>G						PCBP3_uc010gqb.2_Silent_p.L257L|PCBP3_uc002zhp.1_Silent_p.L257L|PCBP3_uc002zhs.1_Silent_p.L231L|PCBP3_uc002zhr.1_Silent_p.L256L|PCBP3_uc002zht.1_Silent_p.L247L	p.L257L	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	10	896	+	all_hematologic(128;0.24)		257					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.771C>G	CCDS42974.2																																																																																				0.552	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2				60	105	0	0	0	1	0	60	105		
SNAP29	9342	broad.mit.edu	37	22	21213484	21213484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:21213484G>A	ENST00000215730.7	+	1	214	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	29					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGGGACGCCCGAGACCTCCCC	0.716																																						uc011ahw.1		NaN																	0					0						c.(85-87)CGA>CAA		synaptosomal-associated protein 29							7.0	9.0	8.0					22																	21213484		2131	4211	6342	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21213484G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.86G>A	22.37:g.21213484G>A	ENSP00000215730:p.Arg29Gln					PI4KA_uc002zsz.3_5'Flank|PI4KA_uc010gsq.1_5'Flank	p.R29Q	NM_004782	NP_004773	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		1	193	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	29						Missense_Mutation	SNP	ENST00000215730.7	37	c.86G>A	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067291	0.20067	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.49	3.04	0.35103	.	525.969000	0.00166	N	0.000000	T	0.22551	0.0544	L	0.29908	0.895	0.09310	N	1	P	0.37015	0.578	B	0.19391	0.025	T	0.21759	-1.0236	9	0.11485	T	0.65	-5.6154	7.4175	0.27053	0.2154:0.1336:0.6511:0.0	.	29	O95721	SNP29_HUMAN	Q	29	.	ENSP00000215730:R29Q	R	+	2	0	SNAP29	19543484	0.060000	0.20803	0.029000	0.17559	0.083000	0.17756	1.227000	0.32576	1.307000	0.44944	0.585000	0.79938	CGA		0.716	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4		NM_004782		10	28	0	0	0	1	0	10	28		
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(2)|p.S372S(1)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1119)TCCAAG>TCTGAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a																																				SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		5	76	0	0	0	1	0	5	76		
ANKRD28	23243	broad.mit.edu	37	3	15752761	15752761	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:15752761C>T	ENST00000399451.2	-	12	1571	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D435N	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	402						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCAAAATCATCTGGGGTATCT	0.328																																						uc003caj.1		NaN																	0				breast(1)	1						c.(1204-1206)GAT>AAT		ankyrin repeat domain 28							69.0	69.0	69.0					3																	15752761		1822	4077	5899	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15752761C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1204G>A	3.37:g.15752761C>T	ENSP00000382379:p.Asp402Asn					ANKRD28_uc003cai.1_Missense_Mutation_p.D248N|ANKRD28_uc011avz.1_Missense_Mutation_p.D248N|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.D432N|ANKRD28_uc003cam.2_Missense_Mutation_p.D435N	p.D402N	NM_015199	NP_056014	O15084	ANR28_HUMAN			12	1347	-			402					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1204G>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495491	0.96355	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.57595	2.25;0.39;2.25	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.993;0.994	T	0.59595	-0.7425	10	0.27785	T	0.31	.	19.584	0.95484	0.0:1.0:0.0:0.0	.	435;432;402	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	N	402;435;402	ENSP00000382379:D402N;ENSP00000373287:D435N;ENSP00000397341:D402N	ENSP00000373287:D435N	D	-	1	0	ANKRD28	15727765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.750000	0.85110	2.698000	0.92095	0.655000	0.94253	GAT		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1		NM_015199		51	6	0	0	0	1	0	51	6		
MST1R	4486	broad.mit.edu	37	3	49927946	49927946	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49927946G>A	ENST00000296474.3	-	18	3809	c.3782C>T	c.(3781-3783)aCc>aTc	p.T1261I	MST1R_ENST00000344206.4_Missense_Mutation_p.T1212I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAATCTATAGGTCTGCAGGCT	0.572																																						uc003cxy.3		NaN																	0				ovary(5)|lung(1)	6						c.(3781-3783)ACC>ATC		macrophage stimulating 1 receptor precursor							105.0	87.0	93.0					3																	49927946		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49927946G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3782C>T	3.37:g.49927946G>A	ENSP00000296474:p.Thr1261Ile					MST1R_uc011bdc.1_Missense_Mutation_p.T140I	p.T1261I	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	18	4046	-			1261			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3782C>T	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398441|4.398441	0.83120|0.83120	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000434765|ENST00000296474;ENST00000344206	.|T;T	.|0.35973	.|1.28;1.28	5.31|5.31	4.44|4.44	0.53790|0.53790	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51534|0.51534	0.1680|0.1680	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|P	.|0.51933	.|0.949	.|P	.|0.57776	.|0.827	T|T	0.56950|0.56950	-0.7894|-0.7894	5|10	.|0.87932	.|D	.|0	-30.6354|-30.6354	16.254|16.254	0.82501|0.82501	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	.|1261	.|Q04912	.|RON_HUMAN	S|I	239|1261;1212	.|ENSP00000296474:T1261I;ENSP00000341325:T1212I	.|ENSP00000296474:T1261I	P|T	-|-	1|2	0|0	MST1R|MST1R	49902950|49902950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.535000|4.535000	0.60629|0.60629	1.475000|1.475000	0.48197|0.48197	-0.264000|-0.264000	0.10439|0.10439	CCT|ACC		0.572	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				36	2	0	0	0	1	0	36	2		
MST1R	4486	broad.mit.edu	37	3	49928679	49928679	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49928679G>A	ENST00000296474.3	-	17	3622	c.3595C>T	c.(3595-3597)Ctg>Ttg	p.L1199L	MST1R_ENST00000344206.4_Silent_p.L1150L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCTGCCAGGTACTCCATG	0.612																																						uc003cxy.3		NaN																	0				ovary(5)|lung(1)	6						c.(3595-3597)CTG>TTG		macrophage stimulating 1 receptor precursor							78.0	70.0	73.0					3																	49928679		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49928679G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3595C>T	3.37:g.49928679G>A						MST1R_uc011bdc.1_Silent_p.L78L	p.L1199L	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	17	3859	-			1199			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3595C>T	CCDS2807.1																																																																																				0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				63	2	0	0	0	1	0	63	2		
MST1R	4486	broad.mit.edu	37	3	49928719	49928719	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49928719G>A	ENST00000296474.3	-	17	3582	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	MST1R_ENST00000344206.4_Silent_p.L1136L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAAGCTGATGAGGTCCTTCA	0.632																																						uc003cxy.3		NaN																	0				ovary(5)|lung(1)	6						c.(3553-3555)CTC>CTT		macrophage stimulating 1 receptor precursor							70.0	66.0	67.0					3																	49928719		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49928719G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3555C>T	3.37:g.49928719G>A						MST1R_uc011bdc.1_Silent_p.L64L	p.L1185L	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	17	3819	-			1185			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3555C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	.	8.886	0.952731	0.18431	.	.	ENSG00000164078	ENST00000434765;ENST00000440292	.	.	.	5.21	2.34	0.29019	.	.	.	.	.	T	0.45955	0.1368	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	-29.768	3.3597	0.07182	0.1411:0.2483:0.4829:0.1277	.	.	.	.	L	163;206	.	.	S	-	2	0	MST1R	49903723	0.787000	0.28750	0.993000	0.49108	0.993000	0.82548	-0.011000	0.12721	0.259000	0.21709	0.643000	0.83706	TCA		0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				64	4	0	0	0	1	0	64	4		
MST1R	4486	broad.mit.edu	37	3	49929255	49929255	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:49929255G>A	ENST00000296474.3	-	15	3315	c.3288C>T	c.(3286-3288)gtC>gtT	p.V1096V	MST1R_ENST00000344206.4_Silent_p.V1047V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1096	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTCCGTGGTAGACAACTCCAA	0.532																																						uc003cxy.3		NaN																	0				ovary(5)|lung(1)	6						c.(3286-3288)GTC>GTT		macrophage stimulating 1 receptor precursor							206.0	181.0	189.0					3																	49929255		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929255G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3288C>T	3.37:g.49929255G>A						MST1R_uc011bdc.1_5'UTR	p.V1096V	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	15	3552	-			1096			Cytoplasmic (Potential).|ATP.|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3288C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	.	9.472	1.095759	0.20552	.	.	ENSG00000164078	ENST00000434765;ENST00000440292	.	.	.	5.55	2.65	0.31530	.	.	.	.	.	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48502	-0.9030	4	.	.	.	-16.3895	7.9544	0.30033	0.1402:0.371:0.4887:0.0	.	.	.	.	F	74;117	.	.	S	-	2	0	MST1R	49904259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.716000	0.25836	0.273000	0.22049	0.632000	0.83419	TCT		0.532	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				129	11	0	0	0	1	0	129	11		
MBD4	8930	broad.mit.edu	37	3	129150350	129150350	+	Silent	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr3:129150350T>C	ENST00000249910.1	-	8	1912	c.1737A>G	c.(1735-1737)ctA>ctG	p.L579L	MBD4_ENST00000503197.1_3'UTR|MBD4_ENST00000509587.1_5'Flank|EFCAB12_ENST00000505956.1_5'Flank|MBD4_ENST00000429544.2_Silent_p.L573L|MBD4_ENST00000393278.2_Silent_p.L261L|EFCAB12_ENST00000326085.3_5'Flank	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	579					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						GAGTTTAAGATAGACTTAATT	0.368								Base excision repair (BER), DNA glycosylases																														uc003emh.1		NaN																	0				ovary(1)|lung(1)	2						c.(1735-1737)CTA>CTG	BER_DNA_glycosylases	methyl-CpG binding domain protein 4							198.0	208.0	205.0					3																	129150350		2203	4300	6503	SO:0001819	synonymous_variant	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129150350T>C	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1737A>G	3.37:g.129150350T>C						uc003emg.2_5'Flank|MBD4_uc003emi.1_3'UTR|MBD4_uc003emj.1_Silent_p.L573L|MBD4_uc003emk.1_Silent_p.L261L	p.L579L	NM_003925	NP_003916	O95243	MBD4_HUMAN			8	1913	-			579					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	c.1737A>G	CCDS3058.1																																																																																				0.368	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1		NM_003925		125	9	0	0	0	1	0	125	9		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		20	11	0	0	0	1	0	20	11		
TBC1D1	23216	broad.mit.edu	37	4	38051478	38051478	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:38051478G>C	ENST00000261439.4	+	11	2224	c.1869G>C	c.(1867-1869)atG>atC	p.M623I	TBC1D1_ENST00000508802.1_Missense_Mutation_p.M623I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	623					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGAAACTTATGAGGTATCACT	0.507																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(1867-1869)ATG>ATC		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							54.0	61.0	59.0					4																	38051478		2201	4292	6493	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38051478G>C	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1869G>C	4.37:g.38051478G>C	ENSP00000261439:p.Met623Ile					TBC1D1_uc011byd.1_Missense_Mutation_p.M623I|TBC1D1_uc010ifd.2_Missense_Mutation_p.M370I|TBC1D1_uc011byf.1_Missense_Mutation_p.M494I	p.M623I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			11	2212	+			623					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1869G>C	CCDS33972.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.88|11.88|11.88	1.771732|1.771732|1.771732	0.31320|0.31320|0.31320	.|.|.	.|.|.	ENSG00000065882|ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803;ENST00000421339|ENST00000513936;ENST00000443855	.|T;T;T;T|.	.|0.39406|.	.|3.69;1.08;1.08;1.08|.	5.06|5.06|5.06	5.06|5.06|5.06	0.68205|0.68205|0.68205	.|.|.	.|0.607412|.	.|0.17025|.	.|N|.	.|0.189942|.	T|T|.	0.42607|0.42607|.	0.1210|0.1210|.	N|N|N	0.17474|0.17474|0.17474	0.49|0.49|0.49	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B;B;B|.	.|0.13145|.	.|0.0;0.007;0.0;0.0|.	.|B;B;B;B|.	.|0.06405|.	.|0.002;0.001;0.0;0.002|.	T|T|.	0.26780|0.26780|.	-1.0093|-1.0093|.	5|10|.	.|0.15499|.	.|T|.	.|0.54|.	-5.4579|-5.4579|-5.4579	12.1991|12.1991|12.1991	0.54315|0.54315|0.54315	0.0784:0.0:0.9216:0.0|0.0784:0.0:0.9216:0.0|0.0784:0.0:0.9216:0.0	.|.|.	.|623;623;355;623|.	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.|.;.;.;TBCD1_HUMAN|.	Q|I|S	271|623;623;494;91|148;115	.|ENSP00000423651:M623I;ENSP00000261439:M623I;ENSP00000396877:M494I;ENSP00000410167:M91I|.	.|ENSP00000261439:M623I|.	E|M|X	+|+|+	1|3|2	0|0|2	TBC1D1|TBC1D1|TBC1D1	37727873|37727873|37727873	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.971000|0.971000|0.971000	0.41717|0.41717|0.41717	0.742000|0.742000|0.742000	0.42306|0.42306|0.42306	5.436000|5.436000|5.436000	0.66538|0.66538|0.66538	2.504000|2.504000|2.504000	0.84457|0.84457|0.84457	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|ATG|TGA		0.507	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		124	56	0	0	0	1	0	124	56		
FRAS1	80144	broad.mit.edu	37	4	79205678	79205678	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:79205678T>C	ENST00000325942.6	+	13	1815	c.1375T>C	c.(1375-1377)Tac>Cac	p.Y459H	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y459H|FRAS1_ENST00000264899.6_Missense_Mutation_p.Y459H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	459					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTGGGTTTTTACCAAGCTGG	0.488																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(1375-1377)TAC>CAC		Fraser syndrome 1							224.0	217.0	219.0					4																	79205678		2054	4190	6244	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79205678T>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1375T>C	4.37:g.79205678T>C	ENSP00000326330:p.Tyr459His					FRAS1_uc003hkw.2_Missense_Mutation_p.Y459H|FRAS1_uc003hky.1_Missense_Mutation_p.Y163H|FRAS1_uc003hkz.2_Missense_Mutation_p.Y163H|FRAS1_uc003hla.1_5'Flank	p.Y459H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			13	1815	+			459			FU 1.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1375T>C	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.14|15.14	2.745296|2.745296	0.49151|0.49151	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000508900|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Growth factor, receptor (1);	.|0.073047	.|0.56097	.|D	.|0.000033	T|T	0.72708|0.72708	0.3494|0.3494	M|M	0.86864|0.86864	2.845|2.845	0.44207|0.44207	D|D	0.997034|0.997034	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;D	.|0.91635	.|0.987;0.993;0.999;0.984	T|T	0.77424|0.77424	-0.2593|-0.2593	5|10	.|0.54805	.|T	.|0.06	.|.	15.4774|15.4774	0.75493|0.75493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|459;459;459;459	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	S|H	301|459;459;459;199	.|ENSP00000326330:Y459H;ENSP00000264895:Y459H;ENSP00000264899:Y459H	.|ENSP00000264895:Y459H	L|Y	+|+	2|1	0|0	FRAS1|FRAS1	79424702|79424702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.048000|0.048000	0.14542|0.14542	6.037000|6.037000	0.70956|0.70956	2.046000|2.046000	0.60703|0.60703	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.488	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2				53	82	0	0	0	1	0	53	82		
PDHA2	5161	broad.mit.edu	37	4	96761293	96761293	+	5'UTR	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:96761293G>A	ENST00000295266.4	+	0	55					NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2						glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACAGCACTCCGTGAAGAATAT	0.617																																						uc003htr.3		NaN																	0				central_nervous_system(1)	1						c.(-10--6)CCGTG>CCATG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						31.0	30.0	31.0					4																	96761293		2203	4300	6503	SO:0001623	5_prime_UTR_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761293G>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.-9G>A	4.37:g.96761293G>A								NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	55	+		Hepatocellular(203;0.114)						B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Translation_Start_Site	SNP	ENST00000295266.4	37	c.-8G>A	CCDS3644.1																																																																																				0.617	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1				4	16	0	0	0	1	0	4	16		
MTTP	4547	broad.mit.edu	37	4	100532349	100532349	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:100532349C>T	ENST00000265517.5	+	13	2022	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.R634C|MTTP_ENST00000457717.1_Missense_Mutation_p.R607C			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	607	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAATTATGACCGTTTCTCCAG	0.423																																						uc003hvc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1819-1821)CGT>TGT		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						163.0	151.0	155.0					4																	100532349		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532349C>T		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1819C>T	4.37:g.100532349C>T	ENSP00000265517:p.Arg607Cys					MTTP_uc011cej.1_Missense_Mutation_p.R634C	p.R607C	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	14	2075	+			607			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1819C>T	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922289	0.92319	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70986	-0.53;-0.53;-0.53	5.84	5.84	0.93424	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.949;0.997	D	0.84722	0.0740	10	0.56958	D	0.05	-25.2675	20.139	0.98050	0.0:1.0:0.0:0.0	.	634;607	E9PBP6;P55157	.;MTP_HUMAN	C	634;607;607	ENSP00000427679:R634C;ENSP00000400821:R607C;ENSP00000265517:R607C	ENSP00000265517:R607C	R	+	1	0	MTTP	100751372	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.874000	0.63064	2.764000	0.94973	0.655000	0.94253	CGT		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3				26	46	0	0	0	1	0	26	46		
FGG	2266	broad.mit.edu	37	4	155527888	155527888	+	Silent	SNP	G	G	A	rs374166238		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:155527888G>A	ENST00000336098.3	-	8	1136	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	FGG_ENST00000405164.1_Silent_p.H374H|FGG_ENST00000407946.1_Silent_p.H374H|FGG_ENST00000404648.3_Silent_p.H366H	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	366	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GATGGCCAGCGTGACACTTGT	0.363																																						uc003ioj.2		NaN																	0					0						c.(1096-1098)CAC>CAT		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)	G	,	0,4406		0,0,2203	192.0	179.0	184.0		1098,1098	-3.9	0.9	4		184	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FGG	NM_000509.4,NM_021870.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/438,366/454	155527888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155527888G>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1098C>T	4.37:g.155527888G>A						FGG_uc003iog.2_Silent_p.H366H|FGG_uc003ioh.2_Silent_p.H374H|FGG_uc010ipx.2_Silent_p.H194H|FGG_uc010ipy.2_Silent_p.H77H|FGG_uc003ioi.2_Silent_p.H77H|FGG_uc003iok.2_Silent_p.H374H	p.H366H	NM_021870	NP_068656	P02679	FIBG_HUMAN			8	1239	-	all_hematologic(180;0.215)	Renal(120;0.0458)	366			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.1098C>T	CCDS3788.1																																																																																				0.363	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1		NM_021870		29	36	0	0	0	1	0	29	36		
ACSL1	2180	broad.mit.edu	37	4	185684329	185684329	+	Missense_Mutation	SNP	C	C	T	rs200424498	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:185684329C>T	ENST00000515030.1	-	16	1838	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	ACSL1_ENST00000507295.1_Missense_Mutation_p.E471K|ACSL1_ENST00000513317.1_Missense_Mutation_p.E505K|ACSL1_ENST00000504342.1_Missense_Mutation_p.E505K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E334K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E334K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E505K			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	505					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCTCGCCCTCGCCCTCGGCA	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		18484	0.0		0.002	False		,,,				2504	0.0					uc003iww.2		NaN																	0				ovary(2)	2						c.(1513-1515)GAG>AAG		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						65.0	64.0	64.0					4																	185684329		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185684329C>T	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1513G>A	4.37:g.185684329C>T	ENSP00000422607:p.Glu505Lys					ACSL1_uc011ckm.1_Missense_Mutation_p.E334K|ACSL1_uc003iwt.1_Missense_Mutation_p.E505K|ACSL1_uc003iwu.1_Missense_Mutation_p.E505K|ACSL1_uc011ckn.1_Missense_Mutation_p.E471K|ACSL1_uc003iws.1_Missense_Mutation_p.E75K	p.E505K	NM_001995	NP_001986	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	16	1807	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	505			Cytoplasmic (Potential).		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1513G>A	CCDS3839.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	18.53	3.644469	0.67244	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.6	5.6	0.85130	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	L	0.33668	1.02	0.80722	D	1	B;B;B;B	0.33512	0.415;0.364;0.364;0.314	B;B;B;B	0.37731	0.257;0.09;0.09;0.054	T	0.15321	-1.0441	10	0.36615	T	0.2	-32.47	19.5961	0.95538	0.0:1.0:0.0:0.0	.	471;505;505;505	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	K	334;505;111;505;471;334;505;505	ENSP00000407165:E334K;ENSP00000422607:E505K;ENSP00000425098:E111K;ENSP00000281455:E505K;ENSP00000426244:E471K;ENSP00000405687:E334K;ENSP00000425006:E505K;ENSP00000426150:E505K	ENSP00000281455:E505K	E	-	1	0	ACSL1	185921323	1.000000	0.71417	0.999000	0.59377	0.636000	0.38137	7.696000	0.84270	2.624000	0.88883	0.655000	0.94253	GAG		0.478	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2		NM_001995		8	21	0	0	0	1	0	8	21		
DNAH5	1767	broad.mit.edu	37	5	13753602	13753602	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:13753602A>C	ENST00000265104.4	-	63	10716	c.10612T>G	c.(10612-10614)Ttt>Gtt	p.F3538V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3538					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGATCACGAAACTCTTGGTTA	0.383									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10612-10614)TTT>GTT		dynein, axonemal, heavy chain 5							90.0	95.0	93.0					5																	13753602		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753602A>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10612T>G	5.37:g.13753602A>C	ENSP00000265104:p.Phe3538Val					DNAH5_uc003jfc.2_5'UTR	p.F3538V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			63	10654	-	Lung NSC(4;0.00476)		3538					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10612T>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	29.4	4.999703	0.93227	.	.	ENSG00000039139	ENST00000265104	T	0.74947	-0.89	5.77	5.77	0.91146	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	H	0.96430	3.82	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.93458	0.6808	10	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	3538	Q8TE73	DYH5_HUMAN	V	3538	ENSP00000265104:F3538V	ENSP00000265104:F3538V	F	-	1	0	DNAH5	13806602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.308000	0.78929	2.326000	0.78906	0.533000	0.62120	TTT		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		33	95	0	0	0	1	0	33	95		
NLN	57486	broad.mit.edu	37	5	65118647	65118647	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:65118647G>A	ENST00000380985.5	+	13	2197	c.2019G>A	c.(2017-2019)ggG>ggA	p.G673G	NLN_ENST00000515595.1_3'UTR|NLN_ENST00000502464.1_Silent_p.G569G	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	673						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAAACCTGGGGGATCTCTGG	0.408																																						uc003juf.2		NaN																	0				central_nervous_system(1)	1						c.(2017-2019)GGG>GGA		neurolysin precursor							128.0	125.0	126.0					5																	65118647		2203	4300	6503	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65118647G>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2019G>A	5.37:g.65118647G>A						NLN_uc003jug.2_Silent_p.G502G|NLN_uc010iww.2_Silent_p.G350G	p.G673G	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	13	2135	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	673					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.2019G>A	CCDS3989.1																																																																																				0.408	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1				28	67	0	0	0	1	0	28	67		
SLC30A5	64924	broad.mit.edu	37	5	68404192	68404192	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:68404192G>C	ENST00000396591.3	+	5	986	c.376G>C	c.(376-378)Gag>Cag	p.E126Q		NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	126					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGCTATTTGAGCACAGTGA	0.333																																						uc003jvh.2		NaN																	0				central_nervous_system(1)	1						c.(376-378)GAG>CAG		solute carrier family 30 (zinc transporter),							144.0	129.0	134.0					5																	68404192		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68404192G>C	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.376G>C	5.37:g.68404192G>C	ENSP00000379836:p.Glu126Gln					SLC30A5_uc003jvi.2_5'UTR	p.E126Q	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	5	577	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	126			Helical; (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.376G>C	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929960	0.73327	.	.	ENSG00000145740	ENST00000396591	T	0.73789	-0.78	5.75	5.75	0.90469	.	0.046740	0.85682	D	0.000000	T	0.74465	0.3720	M	0.65498	2.005	0.80722	D	1	P	0.34864	0.473	B	0.31442	0.13	T	0.76432	-0.2961	10	0.72032	D	0.01	4.678	19.5384	0.95264	0.0:0.0:1.0:0.0	.	126	Q8TAD4	ZNT5_HUMAN	Q	126	ENSP00000379836:E126Q	ENSP00000379836:E126Q	E	+	1	0	SLC30A5	68439948	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.585000	0.98223	2.716000	0.92895	0.655000	0.94253	GAG		0.333	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2				15	14	0	0	0	1	0	15	14		
FAM151B	167555	broad.mit.edu	37	5	79837636	79837636	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:79837636C>G	ENST00000282226.4	+	6	971	c.816C>G	c.(814-816)atC>atG	p.I272M	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	272										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		CCATTGGAATCAAAGTTAATC	0.299																																						uc003kgv.1		NaN																	0					0						c.(814-816)ATC>ATG		hypothetical protein LOC167555							44.0	42.0	43.0					5																	79837636		2203	4296	6499	SO:0001583	missense	167555							g.chr5:79837636C>G		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.816C>G	5.37:g.79837636C>G	ENSP00000282226:p.Ile272Met					FAM151B_uc010jal.1_RNA	p.I272M	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)	6	959	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	272					A2RRE4	Missense_Mutation	SNP	ENST00000282226.4	37	c.816C>G	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595007	0.28445	.	.	ENSG00000152380	ENST00000282226	T	0.10860	2.83	5.62	1.11	0.20524	.	0.631919	0.16643	N	0.205556	T	0.10937	0.0267	M	0.62723	1.935	0.23232	N	0.998078	B	0.29085	0.232	B	0.26864	0.074	T	0.17410	-1.0370	10	0.52906	T	0.07	-12.7925	6.7499	0.23482	0.133:0.6084:0.0:0.2585	.	272	Q6UXP7	F151B_HUMAN	M	272	ENSP00000282226:I272M	ENSP00000282226:I272M	I	+	3	3	FAM151B	79873392	0.940000	0.31905	0.832000	0.32986	0.790000	0.44656	0.065000	0.14466	0.265000	0.21872	0.585000	0.79938	ATC		0.299	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1		NM_205548		12	9	0	0	0	1	0	12	9		
FAM151B	167555	broad.mit.edu	37	5	79837648	79837648	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:79837648C>T	ENST00000282226.4	+	6	983	c.828C>T	c.(826-828)ctC>ctT	p.L276L	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	276										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAGTTAATCTCTAAGAAGAAG	0.299																																						uc003kgv.1		NaN																	0					0						c.(826-828)CTC>CTT		hypothetical protein LOC167555							41.0	39.0	40.0					5																	79837648		2202	4294	6496	SO:0001819	synonymous_variant	167555							g.chr5:79837648C>T		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.828C>T	5.37:g.79837648C>T						FAM151B_uc010jal.1_RNA	p.L276L	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)	6	971	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	276					A2RRE4	Silent	SNP	ENST00000282226.4	37	c.828C>T	CCDS4051.1																																																																																				0.299	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1		NM_205548		10	9	0	0	0	1	0	10	9		
GIN1	54826	broad.mit.edu	37	5	102442494	102442494	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:102442494C>T	ENST00000399004.2	-	3	353	c.259G>A	c.(259-261)Ggt>Agt	p.G87S	GIN1_ENST00000508629.1_Missense_Mutation_p.G87S|GIN1_ENST00000511400.1_5'Flank	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	87					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTGGATATACCATGATGAGCT	0.363																																						uc003koa.1		NaN																	0				ovary(1)|skin(1)	2						c.(259-261)GGT>AGT		zinc finger, H2C2 domain containing							100.0	94.0	96.0					5																	102442494		1851	4097	5948	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102442494C>T	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.259G>A	5.37:g.102442494C>T	ENSP00000381970:p.Gly87Ser					GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Missense_Mutation_p.G87S	p.G87S	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	341	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	87					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.259G>A	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555945	0.86231	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.34472	1.36;1.36	6.06	6.06	0.98353	Zinc finger, H2C2-type, histone UAS binding (1);	0.000000	0.64402	D	0.000008	T	0.43590	0.1254	N	0.08118	0	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.53954	-0.8365	10	0.87932	D	0	26.0591	18.8203	0.92094	0.0:1.0:0.0:0.0	.	87;87	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	S	87	ENSP00000381970:G87S;ENSP00000427162:G87S	ENSP00000381970:G87S	G	-	1	0	GIN1	102470393	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.770000	0.62309	2.880000	0.98712	0.650000	0.86243	GGT		0.363	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3		NM_017676		16	8	0	0	0	1	0	16	8		
VDAC1	7416	broad.mit.edu	37	5	133326826	133326826	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:133326826G>A	ENST00000265333.3	-	4	381	c.137C>T	c.(136-138)tCa>tTa	p.S46L	VDAC1_ENST00000395044.3_Missense_Mutation_p.S46L|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.S46L	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	46					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AGTGTTGGCTGAGCCTGAGCT	0.478																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.1		NaN																	0					0						c.(136-138)TCA>TTA		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						93.0	84.0	87.0					5																	133326826		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326826G>A		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.137C>T	5.37:g.133326826G>A	ENSP00000265333:p.Ser46Leu					VDAC1_uc003kyq.1_Missense_Mutation_p.S46L|VDAC1_uc003kyr.1_Missense_Mutation_p.S46L	p.S46L	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	236	-			46			Beta stranded.		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.137C>T	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114527	0.94339	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	M	0.64567	1.98	0.80722	D	1	D	0.59357	0.985	D	0.68353	0.957	T	0.55879	-0.8071	10	0.17832	T	0.49	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	46	P21796	VDAC1_HUMAN	L	46	ENSP00000265333:S46L;ENSP00000378484:S46L;ENSP00000378487:S46L;ENSP00000390129:S46L	ENSP00000265333:S46L	S	-	2	0	VDAC1	133354725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.779000	0.99018	2.793000	0.96121	0.655000	0.94253	TCA		0.478	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1				27	84	0	0	0	1	0	27	84		
PCDHA5	56143	broad.mit.edu	37	5	140201632	140201632	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr5:140201632G>A	ENST00000529859.1	+	1	272	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	PCDHA5_ENST00000529619.1_Missense_Mutation_p.R91Q|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R91Q|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	91	Cadherin 1. {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)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGGGAGGAGCTG	0.622																																						uc003lhl.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(271-273)CGG>CAG		protocadherin alpha 5 isoform 1 precursor							91.0	106.0	101.0					5																	140201632		2202	4300	6502	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140201632G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.272G>A	5.37:g.140201632G>A	ENSP00000436557:p.Arg91Gln					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_Missense_Mutation_p.R91Q|PCDHA5_uc003lhj.1_Missense_Mutation_p.R91Q	p.R91Q	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	272	+			91			Extracellular (Potential).|Cadherin 1.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.272G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765070	0.90020	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.53206	0.63;0.63;0.63	3.97	3.97	0.46021	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82185	0.4982	H	0.99565	4.63	0.37098	D	0.899752	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.989;0.989	D	0.92497	0.6005	9	0.87932	D	0	.	16.4728	0.84119	0.0:0.0:1.0:0.0	.	91;91;91	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	Q	91	ENSP00000433416:R91Q;ENSP00000436557:R91Q;ENSP00000367366:R91Q	ENSP00000367366:R91Q	R	+	2	0	PCDHA5	140181816	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	9.861000	0.99562	1.937000	0.56155	0.580000	0.79431	CGG		0.622	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908		13	243	0	0	0	1	0	13	243		
SIRT5	23408	broad.mit.edu	37	6	13588578	13588578	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:13588578G>A	ENST00000606117.1	+	4	427	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q|SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron	NM_012241.4	NP_036373.1			sirtuin 5									p.R44Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCAGATTTTCGAAAGTTTTTT	0.403																																						uc003nay.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	skin(2)|upper_aerodigestive_tract(1)	3						c.(130-132)CGA>CAA		sirtuin 5 isoform 1	Suramin(DB04786)						102.0	96.0	98.0					6																	13588578		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13588578G>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.131G>A	6.37:g.13588578G>A	ENSP00000476228:p.Arg44Gln					SIRT5_uc003naw.2_Missense_Mutation_p.R44Q|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.R44Q	p.R44Q	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		4	427	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	44			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000606117.1	37	c.131G>A	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106034	0.77096	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.41758	0.99;0.99;0.99	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.43646	1.37	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.55222	0.771;0.733;0.705	T	0.10965	-1.0607	10	0.33141	T	0.24	-19.5395	17.7879	0.88543	0.0:0.0:1.0:0.0	.	44;44;44	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	Q	44	ENSP00000352830:R44Q;ENSP00000368564:R44Q;ENSP00000368552:R44Q	ENSP00000352830:R44Q	R	+	2	0	SIRT5	13696557	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.466000	0.80914	2.287000	0.76781	0.585000	0.79938	CGA		0.403	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2				35	32	0	0	0	1	0	35	32		
DEF6	50619	broad.mit.edu	37	6	35287672	35287672	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:35287672G>A	ENST00000316637.5	+	9	1464	c.1459G>A	c.(1459-1461)Gcg>Acg	p.A487T	DEF6_ENST00000542066.1_Missense_Mutation_p.A232T	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	487	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CATCGAACGGGCGCAGCAGGA	0.617																																						uc003okk.2		NaN																	0					0						c.(1459-1461)GCG>ACG		differentially expressed in FDCP 6 homolog							31.0	29.0	30.0					6																	35287672		2193	4292	6485	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35287672G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1459G>A	6.37:g.35287672G>A	ENSP00000319831:p.Ala487Thr					DEF6_uc010jvs.2_Missense_Mutation_p.A462T|DEF6_uc010jvt.2_Missense_Mutation_p.A232T	p.A487T	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			9	1498	+			487			Glu-rich.		Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.1459G>A	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	4.733	0.136243	0.09032	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.30714	2.0;1.52	4.87	4.87	0.63330	.	0.120664	0.64402	D	0.000019	T	0.04048	0.0113	N	0.03983	-0.305	0.50467	D	0.999872	B;B;B	0.22146	0.065;0.015;0.015	B;B;B	0.22753	0.041;0.012;0.012	T	0.31024	-0.9958	10	0.02654	T	1	-14.5395	9.7925	0.40715	0.1298:0.0:0.8702:0.0	.	232;487;487	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	T	232;487	ENSP00000442166:A232T;ENSP00000319831:A487T	ENSP00000319831:A487T	A	+	1	0	DEF6	35395650	1.000000	0.71417	0.989000	0.46669	0.887000	0.51463	3.143000	0.50608	2.398000	0.81561	0.561000	0.74099	GCG		0.617	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1		NM_022047		4	5	0	0	0	1	0	4	5		
XPO5	57510	broad.mit.edu	37	6	43495459	43495459	+	Missense_Mutation	SNP	C	C	T	rs375072367		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:43495459C>T	ENST00000265351.7	-	26	3043	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	945					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTGCAGCCTCATCTTCTCCA	0.507																																						uc003ovp.2		NaN																	0				skin(2)|breast(1)|kidney(1)	4						c.(2833-2835)GAG>AAG		exportin 5		C	LYS/GLU	1,3915		0,1,1957	83.0	80.0	81.0		2833	5.6	1.0	6		81	0,8312		0,0,4156	no	missense	XPO5	NM_020750.2	56	0,1,6113	TT,TC,CC		0.0,0.0255,0.0082	benign	945/1205	43495459	1,12227	1958	4156	6114	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43495459C>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2833G>A	6.37:g.43495459C>T	ENSP00000265351:p.Glu945Lys					POLR1C_uc003ovo.1_Intron	p.E945K	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		26	3044	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		945					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2833G>A	CCDS47430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392111|3.392111	0.62066|0.62066	2.55E-4|2.55E-4	0.0|0.0	ENSG00000124571|ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465|ENST00000455285	T|.	0.35789|.	1.29|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Armadillo-type fold (1);|.	0.055822|.	0.64402|.	D|.	0.000001|.	T|T	0.53077|0.53077	0.1774|0.1774	L|L	0.47716|0.47716	1.5|1.5	0.41749|0.41749	D|D	0.98965|0.98965	B|.	0.23937|.	0.094|.	B|.	0.19666|.	0.026|.	T|T	0.47947|0.47947	-0.9077|-0.9077	10|5	0.30078|.	T|.	0.28|.	-13.3639|-13.3639	15.3999|15.3999	0.74830|0.74830	0.0:0.8614:0.1386:0.0|0.0:0.8614:0.1386:0.0	.|.	945|.	Q9HAV4|.	XPO5_HUMAN|.	K|I	945;650;485;573|48	ENSP00000265351:E945K|.	ENSP00000265351:E945K|.	E|M	-|-	1|3	0|0	XPO5|XPO5	43603437|43603437	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	5.472000|5.472000	0.66768|0.66768	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.507	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750		35	44	0	0	0	1	0	35	44		
LMBRD1	55788	broad.mit.edu	37	6	70447864	70447864	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:70447864C>G	ENST00000370577.3	-	7	835	c.606G>C	c.(604-606)ttG>ttC	p.L202F	LMBRD1_ENST00000370570.1_Missense_Mutation_p.L129F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	202					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACATTCCAATCAAGGTCAGAG	0.289																																						uc003pfa.2		NaN																	0				ovary(1)	1						c.(604-606)TTG>TTC		liver regeneration p-53 related protein							48.0	46.0	47.0					6																	70447864		2201	4295	6496	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70447864C>G	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.606G>C	6.37:g.70447864C>G	ENSP00000359609:p.Leu202Phe					LMBRD1_uc003pey.2_5'UTR|LMBRD1_uc003pez.2_Missense_Mutation_p.L129F|LMBRD1_uc010kal.2_Missense_Mutation_p.L129F|LMBRD1_uc003pfb.2_RNA	p.L202F	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			7	721	-			202			Helical; Name=5; (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.606G>C	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	c	18.87	3.715792	0.68844	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.27890	1.64;1.64	5.95	3.27	0.37495	LMBR1-like membrane protein (1);	0.064498	0.64402	D	0.000004	T	0.22936	0.0554	M	0.69823	2.125	0.50313	D	0.999865	P	0.47841	0.901	P	0.55455	0.776	T	0.37033	-0.9723	10	0.09084	T	0.74	-9.58	6.1905	0.20522	0.1318:0.6545:0.0:0.2137	.	202	Q9NUN5	LMBD1_HUMAN	F	202;129	ENSP00000359609:L202F;ENSP00000359602:L129F	ENSP00000359602:L129F	L	-	3	2	LMBRD1	70504585	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	1.921000	0.40035	0.442000	0.26555	-0.145000	0.13849	TTG		0.289	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1		NM_018368		12	13	0	0	0	1	0	12	13		
MDN1	23195	broad.mit.edu	37	6	90421882	90421882	+	Silent	SNP	G	G	A	rs369409082		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:90421882G>A	ENST00000369393.3	-	49	7639	c.7524C>T	c.(7522-7524)taC>taT	p.Y2508Y	MDN1_ENST00000428876.1_Silent_p.Y2508Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2508					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCGATCCAGTAAGTATTCA	0.408																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(7522-7524)TAC>TAT		MDN1, midasin homolog							157.0	159.0	158.0					6																	90421882		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90421882G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7524C>T	6.37:g.90421882G>A							p.Y2508Y	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	49	7640	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2508					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7524C>T	CCDS5024.1																																																																																				0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				94	115	0	0	0	1	0	94	115		
KPNA5	3841	broad.mit.edu	37	6	117045538	117045538	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr6:117045538G>A	ENST00000368564.1	+	10	1147	c.999G>A	c.(997-999)caG>caA	p.Q333Q	KPNA5_ENST00000356348.1_Splice_Site_p.Q333Q			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	330	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TTCAAACACAGGTGAGTTCAA	0.279																																						uc003pxh.2		NaN																	0				breast(3)|skin(1)	4						c.(997-999)CAG>CAA		karyopherin alpha 5							86.0	84.0	84.0					6																	117045538		2203	4297	6500	SO:0001630	splice_region_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117045538G>A	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.999+1G>A	6.37:g.117045538G>A							p.Q333Q	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	10	1130	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	330			NLS binding site (minor) (By similarity).|ARM 7.		B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	c.999G>A	CCDS5111.1																																																																																				0.279	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1		NM_002269	Silent	14	30	0	0	0	1	0	14	30		
DNAH11	8701	broad.mit.edu	37	7	21751477	21751477	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:21751477C>A	ENST00000409508.3	+	42	7013	c.6982C>A	c.(6982-6984)Ccg>Acg	p.P2328T	DNAH11_ENST00000328843.6_Splice_Site_p.P2335T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2335	AAA 2. {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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCTGGAATCCGTGAGTATT	0.393									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7003-7005)CCG>ACG		dynein, axonemal, heavy chain 11							86.0	82.0	84.0					7																	21751477		1881	4124	6005	SO:0001630	splice_region_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21751477C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6983+1C>A	7.37:g.21751477C>A							p.P2335T	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			43	7034	+			2335			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7003C>A		.	.	.	.	.	.	.	.	.	.	C	18.43	3.621424	0.66787	.	.	ENSG00000105877	ENST00000328843	D	0.91237	-2.81	5.93	5.93	0.95920	.	0.232813	0.45126	D	0.000384	D	0.91195	0.7226	.	.	.	0.44282	D	0.997148	P	0.46512	0.879	P	0.44477	0.451	D	0.91921	0.5547	9	0.87932	D	0	.	19.1082	0.93305	0.0:1.0:0.0:0.0	.	2335	Q96DT5	DYH11_HUMAN	T	2335	ENSP00000330671:P2335T	ENSP00000330671:P2335T	P	+	1	0	DNAH11	21718002	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.310000	0.43708	2.805000	0.96524	0.655000	0.94253	CCG		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	Missense_Mutation	19	17	1	0	3.32936e-07	1	3.38846e-07	19	17		
FZD9	8326	broad.mit.edu	37	7	72848451	72848451	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:72848451G>A	ENST00000344575.3	+	1	343	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	38	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCTGCGCCGTGCCAGGCGG	0.761																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NaN																	0				central_nervous_system(1)	1						c.(112-114)CCG>CCA		frizzled 9 precursor							8.0	7.0	7.0					7																	72848451		2138	4184	6322	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72848451G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.114G>A	7.37:g.72848451G>A							p.P38P	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	343	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	38			FZ.|Extracellular (Potential).			Silent	SNP	ENST00000344575.3	37	c.114G>A	CCDS5548.1																																																																																				0.761	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1				20	17	0	0	0	1	0	20	17		
ZNF277	11179	broad.mit.edu	37	7	111981066	111981066	+	Silent	SNP	G	G	A	rs193143560	byFrequency	TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:111981066G>A	ENST00000361822.3	+	11	1278	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	383					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AACACACTTCGCTGCTCCCCG	0.423																																						uc003vge.2		NaN																	0				ovary(2)|breast(2)	4						c.(1147-1149)TCG>TCA		zinc finger protein (C2H2 type) 277							90.0	84.0	86.0					7																	111981066		2203	4300	6503	SO:0001819	synonymous_variant	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111981066G>A	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.1149G>A	7.37:g.111981066G>A						ZNF277_uc003vgf.2_Silent_p.S305S|ZNF277_uc003vgg.2_Silent_p.S208S	p.S383S	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN			11	1278	+			383					Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	c.1149G>A	CCDS5755.2																																																																																				0.423	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2		NM_021994		44	50	0	0	0	1	0	44	50		
ARHGEF5	7984	broad.mit.edu	37	7	144077079	144077079	+	Missense_Mutation	SNP	G	G	A	rs200654855		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:144077079G>A	ENST00000056217.5	+	15	4898	c.4724G>A	c.(4723-4725)cGt>cAt	p.R1575H	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.R497H	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1575					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCAGAGGTCCGTGCACAGAAC	0.572																																						uc003wel.2		NaN																	0				skin(2)	2						c.(4723-4725)CGT>CAT		rho guanine nucleotide exchange factor 5		G	HIS/ARG	0,4406		0,0,2203	121.0	120.0	120.0		4724	5.3	0.4	7		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGEF5	NM_005435.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1575/1598	144077079	1,13005	2203	4300	6503	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144077079G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4724G>A	7.37:g.144077079G>A	ENSP00000056217:p.Arg1575His					ARHGEF5_uc003wem.2_Missense_Mutation_p.R376H	p.R1575H	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			15	4842	+	Melanoma(164;0.14)		1575					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.4724G>A	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.859420|4.859420	0.91433|0.91433	0.0|0.0	1.16E-4|1.16E-4	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	T;T|.	0.30182|.	1.54;1.54|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.230783|.	0.35970|.	N|.	0.002870|.	T|T	0.56615|0.56615	0.1997|0.1997	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.65874|.	0.939;0.661|.	T|T	0.50083|0.50083	-0.8869|-0.8869	10|5	0.87932|.	D|.	0|.	-3.3577|-3.3577	16.5763|16.5763	0.84648|0.84648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	376;1575|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	H|M	1575;376;497|775	ENSP00000056217:R1575H;ENSP00000418227:R497H|.	ENSP00000056217:R1575H|.	R|V	+|+	2|1	0|0	ARHGEF5|ARHGEF5	143708012|143708012	1.000000|1.000000	0.71417|0.71417	0.357000|0.357000	0.25798|0.25798	0.916000|0.916000	0.54674|0.54674	9.186000|9.186000	0.94906|0.94906	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.572	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1		NM_005435		88	106	0	0	0	1	0	88	106		
CNTNAP2	26047	broad.mit.edu	37	7	147844772	147844772	+	Missense_Mutation	SNP	G	G	A	rs369919189		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:147844772G>A	ENST00000361727.3	+	17	3260	c.2744G>A	c.(2743-2745)cGc>cAc	p.R915H	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	915	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R915H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCACACCCGCCTGGAGCTC	0.522										HNSCC(39;0.1)																												uc003weu.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2743-2745)CGC>CAC		cell recognition molecule Caspr2 precursor							54.0	54.0	54.0					7																	147844772		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844772G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2744G>A	7.37:g.147844772G>A	ENSP00000354778:p.Arg915His	HNSCC(39;0.1)					p.R915H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3260	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	915			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2744G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703305	0.88924	.	.	ENSG00000174469	ENST00000361727	T	0.77750	-1.12	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	L	0.35644	1.08	0.80722	D	1	P	0.52577	0.954	P	0.49637	0.617	T	0.70733	-0.4791	10	0.15066	T	0.55	.	17.9875	0.89159	0.0:0.0:1.0:0.0	.	915	Q9UHC6	CNTP2_HUMAN	H	915	ENSP00000354778:R915H	ENSP00000354778:R915H	R	+	2	0	CNTNAP2	147475705	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.898000	0.87363	2.583000	0.87209	0.561000	0.74099	CGC		0.522	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				55	53	0	0	0	1	0	55	53		
ADRA1A	148	broad.mit.edu	37	8	26627912	26627912	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:26627912G>T	ENST00000519229.1	-	2	1161	c.1155C>A	c.(1153-1155)ttC>ttA	p.F385L	ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.F385L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.F385L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.F385L|ADRA1A_ENST00000276393.4_Missense_Mutation_p.F385L|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380573.3_Missense_Mutation_p.F385L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	344					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGATCCTGTAGAAGGTCTCTC	0.557																																						uc003xfh.1		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1153-1155)TTC>TTA		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						127.0	121.0	123.0					8																	26627912		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627912G>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1155C>A	8.37:g.26627912G>T	ENSP00000430793:p.Phe385Leu					ADRA1A_uc003xfc.1_Missense_Mutation_p.F385L|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.F385L|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.F385L	p.F385L	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1591	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	385			Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1155C>A		.	.	.	.	.	.	.	.	.	.	G	2.894	-0.229020	0.06022	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.61510	2.32;0.21;0.18;0.1;0.28;0.28	5.96	5.09	0.68999	.	0.222841	0.38272	N	0.001750	T	0.46328	0.1387	L	0.39898	1.24	0.80722	D	1	B;P;P;P	0.47762	0.002;0.885;0.885;0.9	B;B;B;B	0.43301	0.003;0.415;0.415;0.366	T	0.38415	-0.9662	10	0.10111	T	0.7	.	10.9131	0.47120	0.144:0.0:0.856:0.0	.	385;385;385;385	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	L	385	ENSP00000369960:F385L;ENSP00000369956:F385L;ENSP00000430793:F385L;ENSP00000346557:F385L;ENSP00000276393:F385L;ENSP00000369947:F385L	ENSP00000276393:F385L	F	-	3	2	ADRA1A	26683829	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	5.071000	0.64382	1.534000	0.49203	0.655000	0.94253	TTC		0.557	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1		NM_033303		106	118	1	0	3.33393e-45	1	3.49656e-45	106	118		
NKX6-3	157848	broad.mit.edu	37	8	41504183	41504183	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:41504183G>A	ENST00000524115.2	-	2	196	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	195					cell fate determination (GO:0001709)|glandular epithelial cell differentiation (GO:0002067)|negative regulation of epithelial cell differentiation (GO:0030857)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCTTCTTCCGCCACTTGGTC	0.697																																						uc003xoa.2		NaN																	0					0						c.(193-195)CGG>TGG		NK6 homeobox 3							12.0	10.0	10.0					8																	41504183		2065	4045	6110	SO:0001583	missense	157848					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:41504183G>A	AK057898	CCDS6118.1	8p11.21	2014-08-12	2007-07-09		ENSG00000165066	ENSG00000165066		"""Homeoboxes / ANTP class : NKL subclass"""	26328	protein-coding gene	gene with protein product		610772	"""NK6 transcription factor related, locus 3 (Drosophila)"""			16326147	Standard	XM_005273422		Approved	FLJ25169	uc003xoa.2	A6NJ46	OTTHUMG00000164083	ENST00000524115.2:c.193C>T	8.37:g.41504183G>A	ENSP00000429553:p.Arg65Trp					NKX6-3_uc010lxa.1_Missense_Mutation_p.R65W	p.R65W	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	197	-	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	195			Homeobox.		Q96LR0	Missense_Mutation	SNP	ENST00000524115.2	37	c.193C>T	CCDS6118.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409461	0.83340	.	.	ENSG00000165066	ENST00000524115;ENST00000425142;ENST00000518699	T;D	0.97665	0.2;-4.48	4.9	0.451	0.16629	.	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97983	1.0350	9	0.87932	D	0	.	13.8763	0.63655	0.0:0.0:0.3644:0.6356	.	65	A6NJ46-2	.	W	65;195;195	ENSP00000429553:R65W;ENSP00000428361:R195W	ENSP00000414183:R195W	R	-	1	2	NKX6-3	41623340	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	1.390000	0.34464	0.065000	0.16485	0.491000	0.48974	CGG		0.697	NKX6-3-002	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000377166.2		NM_152568		5	9	0	0	0	1	0	5	9		
CHD7	55636	broad.mit.edu	37	8	61712986	61712986	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:61712986A>G	ENST00000423902.2	+	5	2757	c.2278A>G	c.(2278-2280)Act>Gct	p.T760A	CHD7_ENST00000525508.1_Missense_Mutation_p.T760A|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	760					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGCGCTACACTGAAGACCT	0.478																																						uc003xue.2		NaN																	1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(2278-2280)ACT>GCT		chromodomain helicase DNA binding protein 7							54.0	54.0	54.0					8																	61712986		1997	4196	6193	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61712986A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2278A>G	8.37:g.61712986A>G	ENSP00000392028:p.Thr760Ala						p.T760A	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		5	2755	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	760					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2278A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.823043	0.32237	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.34859	1.34;1.34	5.3	5.3	0.74995	.	0.000000	0.48767	D	0.000163	T	0.30166	0.0756	L	0.36672	1.1	0.58432	D	0.999999	B	0.17465	0.022	B	0.18871	0.023	T	0.06373	-1.0830	10	0.21540	T	0.41	-15.9111	15.2853	0.73822	1.0:0.0:0.0:0.0	.	760	Q9P2D1	CHD7_HUMAN	A	760	ENSP00000392028:T760A;ENSP00000436027:T760A	ENSP00000307304:T760A	T	+	1	0	CHD7	61875540	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	6.962000	0.76048	1.995000	0.58328	0.533000	0.62120	ACT		0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		21	21	0	0	0	1	0	21	21		
UBR5	51366	broad.mit.edu	37	8	103305851	103305851	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:103305851G>A	ENST00000520539.1	-	34	5177	c.4571C>T	c.(4570-4572)tCa>tTa	p.S1524L	UBR5_ENST00000519528.1_5'UTR|UBR5_ENST00000220959.4_Missense_Mutation_p.S1524L|UBR5_ENST00000521922.1_Missense_Mutation_p.S1518L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1524					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGATCAGATGATGGTCGTGG	0.443																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4570-4572)TCA>TTA		ubiquitin protein ligase E3 component n-recognin							142.0	128.0	133.0					8																	103305851		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103305851G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4571C>T	8.37:g.103305851G>A	ENSP00000429084:p.Ser1524Leu					UBR5_uc003yks.1_Missense_Mutation_p.S1524L	p.S1524L	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		34	4604	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1524					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.4571C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141302	0.94560	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	6.05	6.05	0.98169	.	0.075380	0.56097	D	0.000033	T	0.37433	0.1003	L	0.38175	1.15	0.80722	D	1	P;P	0.39480	0.675;0.675	B;B	0.34093	0.175;0.175	T	0.28364	-1.0046	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1518;1524	E7EMW7;O95071	.;UBR5_HUMAN	L	1524;1524;1518	ENSP00000429084:S1524L;ENSP00000220959:S1524L;ENSP00000427819:S1518L	ENSP00000220959:S1524L	S	-	2	0	UBR5	103375027	1.000000	0.71417	0.518000	0.27811	0.983000	0.72400	9.807000	0.99171	2.878000	0.98634	0.650000	0.86243	TCA		0.443	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		36	64	0	0	0	1	0	36	64		
COL22A1	169044	broad.mit.edu	37	8	139606405	139606405	+	Silent	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr8:139606405C>T	ENST00000303045.6	-	63	4916	c.4470G>A	c.(4468-4470)gcG>gcA	p.A1490A	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.A1470A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4468-4470)GCG>GCA		collagen, type XXII, alpha 1							38.0	43.0	41.0					8																	139606405		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606405C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4470G>A	8.37:g.139606405C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.A770A	p.A1490A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4917	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1490			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.4470G>A	CCDS6376.1																																																																																				0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		40	59	0	0	0	1	0	40	59		
KANK1	23189	broad.mit.edu	37	9	734746	734746	+	Splice_Site	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:734746A>G	ENST00000382303.1	+	11	3897		c.e11-1		KANK1_ENST00000382293.3_Splice_Site|KANK1_ENST00000382297.2_Splice_Site|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTCTCCTTTCAGGTATGAATT	0.338																																						uc003zgl.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.e11-2		KN motif and ankyrin repeat domains 1 isoform a							72.0	67.0	69.0					9																	734746		2203	4300	6503	SO:0001630	splice_region_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:734746A>G	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3246-1A>G	9.37:g.734746A>G						KANK1_uc003zgn.1_Splice_Site_p.R1082_splice|KANK1_uc003zgs.1_Splice_Site_p.R924_splice|KANK1_uc010mgx.1_Splice_Site_p.R37_splice|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	p.R1082_splice	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	11	3895	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)						A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Splice_Site	SNP	ENST00000382303.1	37	c.3246_splice	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108548	0.37242	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KANK1	724746	1.000000	0.71417	0.979000	0.43373	0.386000	0.30323	8.798000	0.91888	2.367000	0.80283	0.528000	0.53228	.		0.338	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2		NM_015158	Intron	38	29	0	0	0	1	0	38	29		
SLC24A2	25769	broad.mit.edu	37	9	19573435	19573435	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:19573435C>T	ENST00000341998.2	-	6	1322	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	SLC24A2_ENST00000286344.3_Missense_Mutation_p.D404N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	421					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATTTCAACATCTGTGCTGGTG	0.433																																						uc003zoa.1		NaN																	0				ovary(3)	3						c.(1261-1263)GAT>AAT		solute carrier family 24							194.0	169.0	177.0					9																	19573435		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19573435C>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1261G>A	9.37:g.19573435C>T	ENSP00000344801:p.Asp421Asn					SLC24A2_uc003zob.1_Missense_Mutation_p.D404N	p.D421N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	6	1323	-			421			Cytoplasmic (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1261G>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640334	0.47153	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.74632	-0.85;-0.86	5.03	5.03	0.67393	.	0.246358	0.38778	N	0.001567	T	0.52322	0.1727	N	0.03608	-0.345	0.44168	D	0.996976	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50575	-0.8812	9	.	.	.	.	17.1261	0.86714	0.0:1.0:0.0:0.0	.	404;421	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	N	421;404	ENSP00000344801:D421N;ENSP00000286344:D404N	.	D	-	1	0	SLC24A2	19563435	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	5.560000	0.67332	2.322000	0.78497	0.549000	0.68633	GAT		0.433	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2		NM_020344		48	16	0	0	0	1	0	48	16		
VCP	7415	broad.mit.edu	37	9	35061086	35061086	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:35061086G>A	ENST00000358901.6	-	11	2180	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	429					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGTCAATGAGATCCATCTTC	0.537																																						uc003zvy.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1285-1287)CTC>TTC		valosin-containing protein							180.0	166.0	171.0					9																	35061086		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061086G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1285C>T	9.37:g.35061086G>A	ENSP00000351777:p.Leu429Phe					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.L98F|VCP_uc010mki.1_Missense_Mutation_p.L384F	p.L429F	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		11	1674	-			429					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1285C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228958	0.39399	.	.	ENSG00000165280	ENST00000358901	D	0.94862	-3.54	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92247	0.7541	L	0.41710	1.295	0.80722	D	1	B	0.29508	0.246	B	0.29942	0.109	D	0.90435	0.4427	10	0.56958	D	0.05	-33.1112	19.2829	0.94058	0.0:0.0:1.0:0.0	.	429	P55072	TERA_HUMAN	F	429	ENSP00000351777:L429F	ENSP00000351777:L429F	L	-	1	0	VCP	35051086	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.876000	0.87215	2.572000	0.86782	0.462000	0.41574	CTC		0.537	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1		NM_007126		139	131	0	0	0	1	0	139	131		
TRMT10B	158234	broad.mit.edu	37	9	37768130	37768130	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:37768130G>C	ENST00000297994.3	+	5	543	c.478G>C	c.(478-480)Gac>Cac	p.D160H	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Intron|TRMT10B_ENST00000377754.2_Missense_Mutation_p.D65H|TRMT10B_ENST00000377753.2_Missense_Mutation_p.D82H	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	160	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										CAAAAAAGCTGACAGGCCATT	0.413																																						uc004aai.2		NaN																	0					0						c.(478-480)GAC>CAC		RNA (guanine-9-) methyltransferase domain							173.0	162.0	166.0					9																	37768130		1848	4097	5945	SO:0001583	missense	158234						methyltransferase activity	g.chr9:37768130G>C	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 3"""	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.478G>C	9.37:g.37768130G>C	ENSP00000297994:p.Asp160His					RG9MTD3_uc011lqo.1_Intron|RG9MTD3_uc011lqp.1_Missense_Mutation_p.D82H|RG9MTD3_uc011lqq.1_Missense_Mutation_p.D49H|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.D65H	p.D160H	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN		GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)	5	555	+			160					B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	c.478G>C	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050511	0.55218	.	.	ENSG00000165275	ENST00000377753;ENST00000377754;ENST00000297994	T;T;T	0.21932	1.98;1.98;1.98	5.46	2.55	0.30701	.	0.664927	0.16322	N	0.219519	T	0.20088	0.0483	N	0.24115	0.695	0.35150	D	0.769705	P;P;B;P	0.50943	0.905;0.94;0.377;0.658	P;P;P;P	0.51016	0.656;0.587;0.482;0.549	T	0.21965	-1.0230	10	0.46703	T	0.11	-2.4276	9.3656	0.38223	0.2603:0.0:0.7397:0.0	.	49;82;65;160	B7Z9F7;B7Z216;Q6PF06-2;Q6PF06	.;.;.;RG9D3_HUMAN	H	82;65;160	ENSP00000366982:D82H;ENSP00000366983:D65H;ENSP00000297994:D160H	ENSP00000297994:D160H	D	+	1	0	RG9MTD3	37758130	0.000000	0.05858	0.987000	0.45799	0.994000	0.84299	0.647000	0.24812	0.773000	0.33404	0.585000	0.79938	GAC		0.413	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1		NM_144964		77	100	0	0	0	1	0	77	100		
XPA	7507	broad.mit.edu	37	9	100459547	100459547	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:100459547C>T	ENST00000375128.4	-	1	92	c.28G>A	c.(28-30)Gag>Aag	p.E10K	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	10	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				GCCGCCGCCTCCGGCAAAGCC	0.736			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc004axr.3		NaN	yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	Mis|N|F|S	"""xeroderma pigmentosum, complementation group A"""			E		skin basal cell|skin squamous cell|melanoma			0				breast(1)	1						c.(28-30)GAG>AAG	NER	xeroderma pigmentosum, complementation group A							11.0	16.0	14.0					9																	100459547		1899	3916	5815	SO:0001583	missense	7507	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459547C>T	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.28G>A	9.37:g.100459547C>T	ENSP00000364270:p.Glu10Lys					XPA_uc004axs.3_RNA	p.E10K	NM_000380	NP_000371	P23025	XPA_HUMAN			1	145	-		Acute lymphoblastic leukemia(62;0.158)	10			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	c.28G>A	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894780	0.52121	.	.	ENSG00000136936	ENST00000375128	T	0.60171	0.21	5.02	4.11	0.48088	.	0.496209	0.20786	N	0.085718	T	0.43433	0.1247	L	0.34521	1.04	0.32234	N	0.573604	B	0.24186	0.099	B	0.19391	0.025	T	0.47935	-0.9078	10	0.17832	T	0.49	.	11.727	0.51714	0.0:0.8215:0.1785:0.0	.	10	P23025	XPA_HUMAN	K	10	ENSP00000364270:E10K	ENSP00000364270:E10K	E	-	1	0	XPA	99499368	0.849000	0.29639	0.830000	0.32933	0.222000	0.24845	1.324000	0.33712	1.223000	0.43536	0.462000	0.41574	GAG		0.736	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1		NM_000380		21	20	0	0	0	1	0	21	20		
SPTAN1	6709	broad.mit.edu	37	9	131379944	131379944	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131379944G>C	ENST00000372731.4	+	41	5478	c.5368G>C	c.(5368-5370)Gag>Cag	p.E1790Q	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1795Q|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1795Q	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1790					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTGGGCTCAGAGGACTACGG	0.572																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5368-5370)GAG>CAG		spectrin, alpha, non-erythrocytic 1							55.0	56.0	56.0					9																	131379944		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131379944G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5368G>C	9.37:g.131379944G>C	ENSP00000361816:p.Glu1790Gln					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1795Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1770Q	p.E1790Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			41	5481	+			1790			Spectrin 19.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5368G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454701	0.26161	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.51817	0.69;0.69;0.69	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.25169	0.054;0.097;0.119	B;B;B	0.29176	0.099;0.039;0.065	T	0.15263	-1.0443	10	0.18276	T	0.48	.	19.9559	0.97218	0.0:0.0:1.0:0.0	.	1770;1795;1790	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	Q	1795;1790;1795;1770;39	ENSP00000350882:E1795Q;ENSP00000361816:E1790Q;ENSP00000361824:E1795Q	ENSP00000350882:E1795Q	E	+	1	0	SPTAN1	130419765	1.000000	0.71417	0.963000	0.40424	0.052000	0.14988	9.385000	0.97223	2.728000	0.93425	0.462000	0.41574	GAG		0.572	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		27	6	0	0	0	1	0	27	6		
SPTAN1	6709	broad.mit.edu	37	9	131379988	131379988	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131379988G>T	ENST00000372731.4	+	41	5522	c.5412G>T	c.(5410-5412)aaG>aaT	p.K1804N	SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1809N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K1809N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1804					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACCTGAGGAAGAAGCACAAGC	0.597																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5410-5412)AAG>AAT		spectrin, alpha, non-erythrocytic 1							59.0	63.0	62.0					9																	131379988		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131379988G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5412G>T	9.37:g.131379988G>T	ENSP00000361816:p.Lys1804Asn					SPTAN1_uc004bvm.3_Missense_Mutation_p.K1809N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1784N	p.K1804N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			41	5525	+			1804			Spectrin 19.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5412G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997300	0.74818	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.55413	0.52;0.52;0.52	5.76	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.994	D;D;D	0.77004	0.985;0.981;0.989	T	0.77278	-0.2647	10	0.56958	D	0.05	.	13.7195	0.62719	0.1454:0.0:0.8546:0.0	.	1784;1809;1804	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1809;1804;1809;1784;53	ENSP00000350882:K1809N;ENSP00000361816:K1804N;ENSP00000361824:K1809N	ENSP00000350882:K1809N	K	+	3	2	SPTAN1	130419809	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.830000	0.55768	1.460000	0.47911	-0.362000	0.07510	AAG		0.597	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		39	8	1	0	3.76604e-16	1	3.87879e-16	39	8		
SPTAN1	6709	broad.mit.edu	37	9	131380380	131380380	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131380380G>T	ENST00000372731.4	+	42	5688	c.5578G>T	c.(5578-5580)Gct>Tct	p.A1860S	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A1865S|SPTAN1_ENST00000358161.5_Missense_Mutation_p.A1865S	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1860					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAGCTGGCAGCTGCCCGGTG	0.612																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5578-5580)GCT>TCT		spectrin, alpha, non-erythrocytic 1							42.0	46.0	45.0					9																	131380380		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131380380G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5578G>T	9.37:g.131380380G>T	ENSP00000361816:p.Ala1860Ser					SPTAN1_uc004bvm.3_Missense_Mutation_p.A1865S|SPTAN1_uc004bvn.3_Missense_Mutation_p.A1840S	p.A1860S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			42	5691	+			1860			Spectrin 19.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5578G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227409	0.39399	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.53640	0.61;0.61;0.61	6.17	2.26	0.28386	.	0.269168	0.41823	N	0.000806	T	0.36908	0.0984	L	0.38838	1.175	0.47778	D	0.999511	B;B;B	0.16166	0.016;0.001;0.001	B;B;B	0.27262	0.078;0.025;0.042	T	0.08576	-1.0715	10	0.34782	T	0.22	.	9.7093	0.40236	0.1746:0.0:0.7213:0.1041	.	1840;1865;1860	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	S	1865;1860;1865;1840;109	ENSP00000350882:A1865S;ENSP00000361816:A1860S;ENSP00000361824:A1865S	ENSP00000350882:A1865S	A	+	1	0	SPTAN1	130420201	0.998000	0.40836	0.042000	0.18584	0.798000	0.45092	2.045000	0.41250	-0.039000	0.13602	-0.808000	0.03180	GCT		0.612	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		43	4	1	0	6.04917e-29	1	6.26782e-29	43	4		
SPTAN1	6709	broad.mit.edu	37	9	131381226	131381226	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131381226G>A	ENST00000372731.4	+	43	5772	c.5662G>A	c.(5662-5664)Gag>Aag	p.E1888K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1893K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1893K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1888					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGGATCAATGAGAAAATGAC	0.498																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5662-5664)GAG>AAG		spectrin, alpha, non-erythrocytic 1							100.0	94.0	96.0					9																	131381226		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131381226G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5662G>A	9.37:g.131381226G>A	ENSP00000361816:p.Glu1888Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E1893K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1868K	p.E1888K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			43	5775	+			1888			Spectrin 20.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5662G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674390	0.88445	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.41065	1.01;1.01;1.01	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.73442	0.3587	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;0.983;0.986	D;D;D	0.91635	0.999;0.964;0.979	T	0.77905	-0.2413	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1868;1893;1888	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	1893;1888;1893;1868;137	ENSP00000350882:E1893K;ENSP00000361816:E1888K;ENSP00000361824:E1893K	ENSP00000350882:E1893K	E	+	1	0	SPTAN1	130421047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.788000	0.95919	0.650000	0.86243	GAG		0.498	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		37	6	0	0	0	1	0	37	6		
TOR1B	27348	broad.mit.edu	37	9	132565654	132565654	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:132565654G>A	ENST00000259339.2	+	1	223	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	55					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGCTTCGCCGAGTGCTGCCG	0.746																																						uc004byk.1		NaN																	0					0						c.(163-165)GAG>AAG		torsin family 1, member B (torsin B) precursor							14.0	14.0	14.0					9																	132565654		2003	3937	5940	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132565654G>A	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.163G>A	9.37:g.132565654G>A	ENSP00000259339:p.Glu55Lys						p.E55K	NM_014506	NP_055321	O14657	TOR1B_HUMAN			1	223	+		Ovarian(14;0.0586)	55						Missense_Mutation	SNP	ENST00000259339.2	37	c.163G>A	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939803	0.92526	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.47528	0.84	5.21	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	M	0.74258	2.255	0.80722	D	1	P	0.47106	0.89	B	0.43658	0.426	T	0.56571	-0.7957	10	0.62326	D	0.03	-1.4248	11.1255	0.48315	0.0856:0.0:0.9144:0.0	.	55	O14657	TOR1B_HUMAN	K	55	ENSP00000259339:E55K	ENSP00000259339:E55K	E	+	1	0	TOR1B	131605475	1.000000	0.71417	0.987000	0.45799	0.411000	0.31082	5.309000	0.65774	1.199000	0.43173	0.561000	0.74099	GAG		0.746	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1		NM_014506		21	2	0	0	0	1	0	21	2		
TOR1B	27348	broad.mit.edu	37	9	132565666	132565666	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:132565666G>A	ENST00000259339.2	+	1	235	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	59					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGCTGCCGCGAGGAGCGGCC	0.746																																						uc004byk.1		NaN																	0					0						c.(175-177)GAG>AAG		torsin family 1, member B (torsin B) precursor							13.0	13.0	13.0					9																	132565666		1920	3801	5721	SO:0001583	missense	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132565666G>A	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.175G>A	9.37:g.132565666G>A	ENSP00000259339:p.Glu59Lys						p.E59K	NM_014506	NP_055321	O14657	TOR1B_HUMAN			1	235	+		Ovarian(14;0.0586)	59						Missense_Mutation	SNP	ENST00000259339.2	37	c.175G>A	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	G	5.817	0.335019	0.11013	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.45276	0.9	5.15	-2.76	0.05896	.	0.470000	0.23468	N	0.047854	T	0.15392	0.0371	N	0.17474	0.49	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.21827	-1.0234	10	0.07990	T	0.79	0.4757	0.9654	0.01404	0.1795:0.2655:0.2985:0.2565	.	59	O14657	TOR1B_HUMAN	K	59	ENSP00000259339:E59K	ENSP00000259339:E59K	E	+	1	0	TOR1B	131605487	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.614000	0.02057	-0.979000	0.03529	0.561000	0.74099	GAG		0.746	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1		NM_014506		20	3	0	0	0	1	0	20	3		
ZCCHC5	203430	broad.mit.edu	37	X	77912861	77912861	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:77912861C>T	ENST00000321110.1	-	2	1352	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	353							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GTGCTTTCATCCCAGTTCAGC	0.473																																						uc004edc.1		NaN																	0				ovary(1)	1						c.(1057-1059)GAT>AAT		zinc finger, CCHC domain containing 5							101.0	83.0	89.0					X																	77912861		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912861C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1057G>A	X.37:g.77912861C>T	ENSP00000316794:p.Asp353Asn						p.D353N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	1353	-			353					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1057G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.581129	0.00129	.	.	ENSG00000179300	ENST00000321110	T	0.17213	2.29	3.2	1.42	0.22433	.	0.963844	0.08370	N	0.956250	T	0.07548	0.0190	N	0.16903	0.455	0.09310	N	1	B	0.27997	0.197	B	0.21546	0.035	T	0.33266	-0.9875	10	0.02654	T	1	.	4.7524	0.13066	0.0:0.6917:0.0:0.3083	.	353	Q8N8U3	ZCHC5_HUMAN	N	353	ENSP00000316794:D353N	ENSP00000316794:D353N	D	-	1	0	ZCCHC5	77799517	0.029000	0.19370	0.086000	0.20670	0.343000	0.28985	-0.007000	0.12810	0.237000	0.21200	-0.322000	0.08575	GAT		0.473	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1		NM_152694		20	3	0	0	0	1	0	20	3		
PABPC5	140886	broad.mit.edu	37	X	90691635	90691635	+	Silent	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:90691635G>A	ENST00000312600.3	+	2	1273	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	PABPC5_ENST00000373105.1_Silent_p.E189E|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	353	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTTTTGAAGAGGCTACCAAAG	0.517																																						uc004efg.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1057-1059)GAG>GAA		poly(A) binding protein, cytoplasmic 5							45.0	45.0	45.0					X																	90691635		2201	4300	6501	SO:0001819	synonymous_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691635G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1059G>A	X.37:g.90691635G>A						PABPC5_uc004eff.1_Silent_p.E189E	p.E353E	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1499	+			353			RRM 4.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	c.1059G>A	CCDS14460.1																																																																																				0.517	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1		NM_080832		29	2	0	0	0	1	0	29	2		
RGAG1	57529	broad.mit.edu	37	X	109697193	109697193	+	Silent	SNP	A	A	G			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:109697193A>G	ENST00000465301.2	+	3	3594	c.3348A>G	c.(3346-3348)ggA>ggG	p.G1116G	RGAG1_ENST00000540313.1_Silent_p.G1116G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1116										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGCCTCTGGATCAAAGCCCA	0.527																																						uc004eor.1		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3346-3348)GGA>GGG		retrotransposon gag domain containing 1							161.0	144.0	150.0					X																	109697193		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109697193A>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3348A>G	X.37:g.109697193A>G						RGAG1_uc011msr.1_Silent_p.G1116G	p.G1116G	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	3594	+			1116					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.3348A>G	CCDS14552.1																																																																																				0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2		NM_020769		110	8	0	0	0	1	0	110	8		
HTR2C	3358	broad.mit.edu	37	X	114141244	114141244	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chrX:114141244G>A	ENST00000276198.1	+	6	1371	c.643G>A	c.(643-645)Gtt>Att	p.V215I	HTR2C_ENST00000371951.1_Missense_Mutation_p.V215I|HTR2C_ENST00000371950.3_Missense_Mutation_p.R183H	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	215					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V215I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCCAAATTTCGTTCTTATTGG	0.468																																						uc004epu.1		NaN																	2	Substitution - Missense(2)		central_nervous_system(2)	ovary(3)	3						c.(643-645)GTT>ATT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						310.0	256.0	274.0					X																	114141244		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141244G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.643G>A	X.37:g.114141244G>A	ENSP00000276198:p.Val215Ile					HTR2C_uc010nqc.1_Missense_Mutation_p.V215I|HTR2C_uc004epv.1_Missense_Mutation_p.R183H	p.V215I	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1371	+			215			Helical; Name=5; (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.643G>A	CCDS14564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.666935|2.666935	0.47677|0.47677	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000371950|ENST00000276198;ENST00000371951	T|T;T	0.52526|0.37411	0.66|1.2;1.2	4.87|4.87	4.0|4.0	0.46444|0.46444	.|GPCR, rhodopsin-like superfamily (1);	.|0.190756	.|0.45867	.|N	.|0.000339	T|T	0.21674|0.21674	0.0522|0.0522	N|N	0.20574|0.20574	0.59|0.59	0.24628|0.24628	N|N	0.993637|0.993637	B|B	0.06786|0.27166	0.001|0.17	B|B	0.01281|0.24394	0.0|0.053	T|T	0.14172|0.14172	-1.0482|-1.0482	9|10	0.23302|0.23891	T|T	0.38|0.37	.|.	10.34|10.34	0.43873|0.43873	0.1009:0.0:0.8991:0.0|0.1009:0.0:0.8991:0.0	.|.	183|215	B1AMW4|P28335	.|5HT2C_HUMAN	H|I	183|215	ENSP00000361018:R183H|ENSP00000276198:V215I;ENSP00000361019:V215I	ENSP00000361018:R183H|ENSP00000276198:V215I	R|V	+|+	2|1	0|0	HTR2C|HTR2C	114047500|114047500	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.900000|0.900000	0.52787|0.52787	2.881000|2.881000	0.48538|0.48538	0.954000|0.954000	0.37851|0.37851	0.538000|0.538000	0.68166|0.68166	CGT|GTT		0.468	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1		NM_000868		191	15	0	0	0	1	0	191	15		
LRRC8B	23507	broad.mit.edu	37	1	90058386	90058386	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr1:90058386delG	ENST00000330947.2	+	6	2556	c.2196delG	c.(2194-2196)ttgfs	p.L732fs	LRRC8B_ENST00000439853.1_Frame_Shift_Del_p.L732fs|LRRC8B_ENST00000358200.4_Frame_Shift_Del_p.L732fs|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	732					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GTTTACTTTTGGGGAAAAATA	0.423																																						uc001dni.2		NaN																	0				ovary(2)	2						c.(2194-2196)TTGfs		leucine rich repeat containing 8 family, member							106.0	103.0	104.0					1																	90058386		2203	4300	6503	SO:0001589	frameshift_variant	23507					integral to membrane		g.chr1:90058386delG	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2196delG	1.37:g.90058386delG	ENSP00000332674:p.Leu732fs					LRRC8B_uc001dnh.2_Frame_Shift_Del_p.L732fs|LRRC8B_uc001dnj.2_Frame_Shift_Del_p.L732fs	p.L732fs	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	8	2703	+		all_lung(203;0.17)	732			LRR 12.		D3DT28|Q6UY21|Q8N106|Q92627	Frame_Shift_Del	DEL	ENST00000330947.2	37	c.2196delG	CCDS724.1																																																																																				0.423	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1		NM_015350		47	69	NaN	NaN	NaN	NaN	NaN	47	69	---	---
GPR137C	283554	broad.mit.edu	37	14	53101795	53101798	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr14:53101795_53101798delAACA	ENST00000321662.6	+	7	1252_1255	c.1252_1255delAACA	c.(1252-1257)aacaatfs	p.NN418fs		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	418						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTAGATTTGAACAATCATCATAG	0.382																																						uc001wzu.3		NaN																	0					0						c.(1252-1257)AACAATfs		G protein-coupled receptor 137C																																				SO:0001589	frameshift_variant	283554					integral to membrane		g.chr14:53101795_53101798delAACA	BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.1252_1255delAACA	14.37:g.53101795_53101798delAACA	ENSP00000315106:p.Asn418fs					GPR137C_uc001wzt.3_Frame_Shift_Del_p.N434fs	p.N418fs	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN			7	1252_1255	+	Breast(41;0.0716)		418_419			Cytoplasmic (Potential).		Q86SM2	Frame_Shift_Del	DEL	ENST00000321662.6	37	c.1252_1255delAACA	CCDS45106.1																																																																																				0.382	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1		XM_290615		15	52	NaN	NaN	NaN	NaN	NaN	15	52	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|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)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						uc002ild.3		NaN																	1	Deletion - Frameshift(1)		ovary(1)	lung(2)|breast(2)|ovary(1)	5						c.(271-273)ATCfs		cell division cycle protein 27 isoform 2							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA	p.I91fs	NM_001256	NP_001247	P30260	CDC27_HUMAN			4	398	-			91			TPR 1.		G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2				9	154	NaN	NaN	NaN	NaN	NaN	9	154	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47423804	47423804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr19:47423804delC	ENST00000404338.3	+	1	1872	c.1872delC	c.(1870-1872)gacfs	p.D624fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	624					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CAAATGATGACAAGTATGTGA	0.448																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(1870-1872)GACfs		glucocorticoid receptor DNA binding factor 1							141.0	138.0	139.0					19																	47423804		1894	4120	6014	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423804delC	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1872delC	19.37:g.47423804delC	ENSP00000385720:p.Asp624fs						p.D624fs	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1872	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	624					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.1872delC	CCDS46127.1																																																																																				0.448	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		121	131	NaN	NaN	NaN	NaN	NaN	121	131	---	---
MYH9	4627	broad.mit.edu	37	22	36698721	36698722	+	Splice_Site	DEL	CT	CT	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:36698721_36698722delCT	ENST00000216181.5	-	20	2621_2622	c.2391_2392delAG	c.(2389-2394)aaagca>aaca	p.KA797fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	797	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGGCAAATGCTCTGTGTGGTG	0.599			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(2389-2394)AAAGCAfs		myosin, heavy polypeptide 9, non-muscle																																				SO:0001630	splice_region_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36698721_36698722delCT		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2391-1AG>-	22.37:g.36698723_36698724delCT						MYH9_uc003aph.1_Frame_Shift_Del_p.K661fs	p.K797fs	NM_002473	NP_002464	P35579	MYH9_HUMAN			20	2622_2623	-			797_798			IQ.		A8K6E4|O60805|Q60FE2|Q86T83	Frame_Shift_Del	DEL	ENST00000216181.5	37	c.2391_2392delAG	CCDS13927.1																																																																																				0.599	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473	Frame_Shift_Del	39	43	NaN	NaN	NaN	NaN	NaN	39	43	---	---
EP300	2033	broad.mit.edu	37	22	41523722	41523723	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			AC	-	AC	AC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr22:41523722_41523723delAC	ENST00000263253.7	+	4	2357_2358	c.1138_1139delAC	c.(1138-1140)acafs	p.T380fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	380					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAACCACATGACACACTGCCAG	0.51			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(1138-1140)ACAfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41523722_41523723delAC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1138_1139delAC	22.37:g.41523726_41523727delAC	ENSP00000263253:p.Thr380fs						p.T380fs	NM_001429	NP_001420	Q09472	EP300_HUMAN			4	1533_1534	+			380			TAZ-type 1.		B1AKC2	Frame_Shift_Del	DEL	ENST00000263253.7	37	c.1138_1139delAC	CCDS14010.1																																																																																				0.510	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		55	72	NaN	NaN	NaN	NaN	NaN	55	72	---	---
NOP14	8602	broad.mit.edu	37	4	2954005	2954006	+	Frame_Shift_Ins	INS	-	-	A	rs201475290		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr4:2954005_2954006insA	ENST00000314262.6	-	6	914_915	c.866_867insT	c.(865-867)ctgfs	p.L289fs	NOP14_ENST00000398071.4_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000416614.2_Frame_Shift_Ins_p.L289fs|NOP14_ENST00000502735.1_Frame_Shift_Ins_p.L289fs|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	289					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACCCTACCTCCAGCTTCCTGAG	0.559																																						uc003ggj.1		NaN																	0				pancreas(1)	1						c.(865-867)CTGfs		probable nucleolar complex protein 14																																				SO:0001589	frameshift_variant	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2954005_2954006insA	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.867dupT	4.37:g.2954006_2954006dupA	ENSP00000315674:p.Leu289fs					C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Frame_Shift_Ins_p.L35fs|NOP14_uc003ggk.3_Frame_Shift_Ins_p.L289fs|NOP14_uc003ggl.2_Frame_Shift_Ins_p.L289fs|NOP14_uc010icq.1_RNA	p.L289fs	NM_003703	NP_003694	P78316	NOP14_HUMAN			6	938_939	-			289					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Frame_Shift_Ins	INS	ENST00000314262.6	37	c.866_867insT	CCDS33945.1																																																																																				0.559	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		NM_003703		23	85	NaN	NaN	NaN	NaN	NaN	23	85	---	---
KMT2C	58508	broad.mit.edu	37	7	151843779	151843788	+	Frame_Shift_Del	DEL	TTCTCACACA	TTCTCACACA	-	rs142657994		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			TTCTCACACA	-	TTCTCACACA	TTCTCACACA		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr7:151843779_151843788delTTCTCACACA	ENST00000262189.6	-	53	14145_14154	c.13927_13936delTGTGTGAGAA	c.(13927-13938)tgtgtgagaaaafs	p.CVRK4643fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.CVRK4700fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4643	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCAGACTTTTTTCTCACACATGCCACAGGC	0.419											OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(13927-13938)TGTGTGAGAAAAfs		myeloid/lymphoid or mixed-lineage leukemia 3																																				SO:0001589	frameshift_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151843779_151843788delTTCTCACACA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13927_13936delTGTGTGAGAA	7.37:g.151843779_151843788delTTCTCACACA	ENSP00000262189:p.Cys4643fs		OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1743	MLL3_uc003wkz.2_Frame_Shift_Del_p.C3761fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.C801fs|MLL3_uc003wky.2_Frame_Shift_Del_p.C2207fs	p.C4643fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	53	14146_14155	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4643_4646			FYR C-terminal.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.13927_13936delTGTGTGAGAA	CCDS5931.1																																																																																				0.419	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				25	52	NaN	NaN	NaN	NaN	NaN	25	52	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971092	21971093	+	Frame_Shift_Del	DEL	CC	CC	-	rs137854599|rs137854597		TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08			CC	-	CC	CC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:21971092_21971093delCC	ENST00000304494.5	-	2	535_536	c.265_266delGG	c.(265-267)ggcfs	p.G89fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G89fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.G38fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G89fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.G38fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	89			G -> D (in CMM2; somatic mutation). {ECO:0000269|PubMed:10651484}.|G -> S (in CMM2).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGGAAGCCCTCCCGGGCA	0.757		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1373	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - Missense(5)|Deletion - In frame(2)|Complex - deletion inframe(1)	p.0?(1112)|p.?(13)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)|p.G89G(1)	haematopoietic_and_lymphoid_tissue(283)|skin(179)|central_nervous_system(167)|lung(146)|urinary_tract(92)|bone(74)|soft_tissue(57)|oesophagus(52)|pleura(51)|upper_aerodigestive_tract(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM083605	CDKN2A	M	rs137854599	c.(265-267)GGCfs		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971092_21971093delCC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.265_266delGG	9.37:g.21971092_21971093delCC	ENSP00000307101:p.Gly89fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.G144fs	p.G89fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	477_478	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	89		G -> D (in CMM2; somatic mutation).|G -> S (in CMM2).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.265_266delGG	CCDS6510.1																																																																																				0.757	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077		17	2	NaN	NaN	NaN	NaN	NaN	17	2	---	---
SPTAN1	6709	broad.mit.edu	37	9	131381207	131381207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3BM-01A-11D-A22Z-08	TCGA-GC-A3BM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61da0825-106b-493c-8ccd-e8108b499a9c	0f0c391b-efb0-43d3-b6a5-c53b9fa0f477	g.chr9:131381207delG	ENST00000372731.4	+	43	5753	c.5643delG	c.(5641-5643)gagfs	p.E1883fs	SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.E1888fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.E1888fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1883					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGTGGAAGAGGAAGAAGCCT	0.498																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5641-5643)GAGfs		spectrin, alpha, non-erythrocytic 1							111.0	105.0	107.0					9																	131381207		2203	4300	6503	SO:0001589	frameshift_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131381207delG	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5643delG	9.37:g.131381207delG	ENSP00000361816:p.Glu1883fs					SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1886fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1861fs	p.E1881fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			43	5756	+			1881			Spectrin 20.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	ENST00000372731.4	37	c.5643delG	CCDS6905.1																																																																																				0.498	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		41	7	NaN	NaN	NaN	NaN	NaN	41	7	---	---
