#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
NOC2L	26155	broad.mit.edu	37	1	880485	880485	+	Missense_Mutation	SNP	C	C	T	rs371201923		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:880485C>T	ENST00000327044.6	-	18	2144	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	699	Asp/Glu-rich (acidic).				apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.D699N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		tcctcttcatcgtcttccacc	0.607																																						uc001abz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2095-2097)GAT>AAT		nucleolar complex associated 2 homolog		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	109.0	100.0	103.0		2095	3.6	0.0	1		103	0,8600		0,0,4300	no	missense	NOC2L	NM_015658.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	699/750	880485	1,13005	2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:880485C>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.2095G>A	1.37:g.880485C>T	ENSP00000317992:p.Asp699Asn					NOC2L_uc001aby.3_Missense_Mutation_p.D496N|NOC2L_uc009vjq.2_Missense_Mutation_p.D699N	p.D699N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	18	2154	-	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)	699			Asp/Glu-rich (acidic).		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.2095G>A	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822538	0.32237	2.27E-4	0.0	ENSG00000188976	ENST00000327044	T	0.25749	1.78	3.61	3.61	0.41365	Armadillo-type fold (1);	1.513250	0.04271	N	0.342173	T	0.21468	0.0517	L	0.46157	1.445	0.09310	N	0.999999	P;P;P	0.43352	0.804;0.804;0.804	B;B;B	0.30316	0.04;0.114;0.062	T	0.19451	-1.0305	10	0.24483	T	0.36	-0.0055	10.9019	0.47056	0.0:1.0:0.0:0.0	.	699;699;466	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	N	699	ENSP00000317992:D699N	ENSP00000317992:D699N	D	-	1	0	NOC2L	870348	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	0.352000	0.20113	2.019000	0.59389	0.297000	0.19635	GAT		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1		NM_015658		9	13	0	0	0	0.008291	0	9	13		
VWA1	64856	broad.mit.edu	37	1	1374667	1374667	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:1374667G>A	ENST00000476993.1	+	3	916	c.838G>A	c.(838-840)Gac>Aac	p.D280N	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Missense_Mutation_p.D68N	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	280	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)		p.D280N(2)		NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGACTACGACGTGGCGCT	0.741																																						uc001afs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|NS(1)		0						c.(838-840)GAC>AAC		von Willebrand factor A domain containing 1							8.0	10.0	9.0					1																	1374667		2121	4175	6296	SO:0001583	missense	64856					basement membrane		g.chr1:1374667G>A	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.838G>A	1.37:g.1374667G>A	ENSP00000417185:p.Asp280Asn					VWA1_uc001afr.2_Missense_Mutation_p.D68N	p.D280N	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	1058	+	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)	280			Fibronectin type-III 1.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Missense_Mutation	SNP	ENST00000476993.1	37	c.838G>A	CCDS27.1	.	.	.	.	.	.	.	.	.	.	.	5.845	0.340165	0.11069	.	.	ENSG00000179403	ENST00000404702;ENST00000476993	T;T	0.55052	0.54;0.54	3.93	1.79	0.24919	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.944530	0.08951	N	0.870127	T	0.40719	0.1128	L	0.44542	1.39	0.09310	N	1	P	0.41597	0.756	B	0.36845	0.234	T	0.32079	-0.9920	10	0.56958	D	0.05	-11.731	5.699	0.17871	0.2115:0.1666:0.622:0.0	.	280	Q6PCB0	VWA1_HUMAN	N	68;280	ENSP00000385008:D68N;ENSP00000417185:D280N	ENSP00000385008:D68N	D	+	1	0	VWA1	1364530	0.062000	0.20869	0.155000	0.22561	0.874000	0.50279	1.499000	0.35671	0.835000	0.34877	0.537000	0.68136	GAC		0.741	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1		NM_022834		4	8	0	0	0	0.009096	0	4	8		
TAS1R1	80835	broad.mit.edu	37	1	6634783	6634783	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:6634783G>A	ENST00000333172.6	+	3	784	c.591G>A	c.(589-591)gaG>gaA	p.E197E	TAS1R1_ENST00000328191.4_Silent_p.E197E|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	197					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E197E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCAGGTGGAGACCATGGTGC	0.587																																						uc001ant.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(589-591)GAG>GAA		sweet taste receptor T1r isoform b							97.0	94.0	95.0					1																	6634783		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634783G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.591G>A	1.37:g.6634783G>A						TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Silent_p.E197E	p.E197E	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	591	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	197			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.591G>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757483	0.15846	.	.	ENSG00000173662	ENST00000411823	.	.	.	5.25	1.03	0.20045	.	.	.	.	.	T	0.44265	0.1285	.	.	.	0.37091	D	0.89945	.	.	.	.	.	.	T	0.37197	-0.9716	4	.	.	.	.	3.8881	0.09107	0.1471:0.1298:0.5891:0.134	.	.	.	.	K	123	.	.	R	+	2	0	TAS1R1	6557370	0.009000	0.17119	0.325000	0.25375	0.946000	0.59487	-0.142000	0.10311	0.149000	0.19098	0.655000	0.94253	AGA		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1				9	40	0	0	0	0.004482	0	9	40		
TNFRSF8	943	broad.mit.edu	37	1	12164562	12164562	+	Missense_Mutation	SNP	C	C	T	rs370304432		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:12164562C>T	ENST00000263932.2	+	4	617	c.395C>T	c.(394-396)cCg>cTg	p.P132L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P21L	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	132					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.P132L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TCTGTCTGTCCGGCAGGGATG	0.577																																						uc001atq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(394-396)CCG>CTG		tumor necrosis factor receptor superfamily,		C	LEU/PRO	0,4406		0,0,2203	132.0	101.0	112.0		395	2.9	0.0	1		112	1,8599		0,1,4299	no	missense	TNFRSF8	NM_001243.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	132/596	12164562	1,13005	2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12164562C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.395C>T	1.37:g.12164562C>T	ENSP00000263932:p.Pro132Leu					TNFRSF8_uc010obc.1_Missense_Mutation_p.P21L	p.P132L	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	4	617	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	132			TNFR-Cys 3.|Extracellular (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.395C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	13.79	2.340993	0.41498	0.0	1.16E-4	ENSG00000120949	ENST00000263932;ENST00000417814	T;D	0.95001	3.35;-3.58	4.89	2.86	0.33363	TNFR/CD27/30/40/95 cysteine-rich region (2);	1.555060	0.03424	N	0.206769	D	0.91620	0.7352	L	0.58101	1.795	0.09310	N	1	B;B	0.30033	0.266;0.266	B;B	0.20577	0.03;0.03	T	0.79862	-0.1624	10	0.30078	T	0.28	-3.1656	5.4053	0.16318	0.1985:0.7003:0.0:0.1013	.	21;132	D3YTD8;P28908	.;TNR8_HUMAN	L	132;21	ENSP00000263932:P132L;ENSP00000390650:P21L	ENSP00000263932:P132L	P	+	2	0	TNFRSF8	12087149	0.001000	0.12720	0.025000	0.17156	0.064000	0.16182	1.202000	0.32271	1.397000	0.46682	0.650000	0.86243	CCG		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1				9	21	0	0	0	0.008291	0	9	21		
FBLIM1	54751	broad.mit.edu	37	1	16111108	16111108	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16111108C>G	ENST00000375766.3	+	9	1714	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	FBLIM1_ENST00000509138.1_3'UTR|FBLIM1_ENST00000400773.1_Silent_p.L261L|FBLIM1_ENST00000375771.1_Silent_p.L358L|FBLIM1_ENST00000332305.5_Silent_p.L261L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	358	FERMT2-binding.|LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.L358L(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACAACCATCTCTTCTGCAAGC	0.637																																						uc001axd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1072-1074)CTC>CTG		filamin-binding LIM protein-1 isoform a							136.0	128.0	131.0					1																	16111108		2203	4300	6503	SO:0001819	synonymous_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16111108C>G		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.1074C>G	1.37:g.16111108C>G						FBLIM1_uc001axe.1_Silent_p.L358L|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axh.1_Silent_p.L261L|FBLIM1_uc001axi.1_Silent_p.L261L	p.L358L	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	10	1517	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	358			PLEKHC1-binding.|LIM zinc-binding 3.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	c.1074C>G	CCDS163.1																																																																																				0.637	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3		NM_001024215		6	75	0	0	0	0.001984	0	6	75		
FBXO42	54455	broad.mit.edu	37	1	16641903	16641903	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16641903G>A	ENST00000375592.3	-	2	227	c.11C>T	c.(10-12)tCc>tTc	p.S4F	FBXO42_ENST00000478089.1_5'Flank	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	4								p.S4F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACTGTCCGAGGAGCTGGCCAT	0.458																																						uc001ayg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(10-12)TCC>TTC		F-box protein 42							80.0	68.0	72.0					1																	16641903		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16641903G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.11C>T	1.37:g.16641903G>A	ENSP00000364742:p.Ser4Phe					FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S4F	p.S4F	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	227	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	4					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.11C>T	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242290	0.39598	.	.	ENSG00000037637	ENST00000375592	T	0.05717	3.4	5.81	4.89	0.63831	.	0.177356	0.50627	N	0.000109	T	0.05456	0.0144	N	0.24115	0.695	0.45118	D	0.998134	B	0.10296	0.003	B	0.04013	0.001	T	0.39761	-0.9598	10	0.23891	T	0.37	-9.8239	13.8966	0.63775	0.0731:0.0:0.9269:0.0	.	4	Q6P3S6	FBX42_HUMAN	F	4	ENSP00000364742:S4F	ENSP00000364742:S4F	S	-	2	0	FBXO42	16514490	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.676000	0.68131	1.447000	0.47661	0.563000	0.77884	TCC		0.458	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1				10	65	0	0	0	0.010729	0	10	65		
SPATA21	374955	broad.mit.edu	37	1	16727277	16727277	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16727277C>T	ENST00000335496.1	-	11	1594	c.1112G>A	c.(1111-1113)aGc>aAc	p.S371N	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.S348N	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	371							calcium ion binding (GO:0005509)	p.S371N(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AACTTCTGAGCTCTCTTCTTG	0.592																																						uc001ayn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1111-1113)AGC>AAC		spermatogenesis associated 21							136.0	149.0	144.0					1																	16727277		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16727277C>T		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1112G>A	1.37:g.16727277C>T	ENSP00000335612:p.Ser371Asn					SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.S348N	p.S371N	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1595	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	371					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.1112G>A	CCDS172.1	.	.	.	.	.	.	.	.	.	.	C	0.258	-1.001389	0.02128	.	.	ENSG00000187144	ENST00000491418;ENST00000335496;ENST00000540400	T;T;T	0.64085	0.89;-0.06;-0.08	3.64	-3.1	0.05315	.	0.960892	0.08568	N	0.926578	T	0.36166	0.0957	N	0.16478	0.41	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.002	T	0.14035	-1.0487	10	0.26408	T	0.33	-0.256	1.4809	0.02436	0.1406:0.2036:0.1771:0.4787	.	348;371	F5GXP5;Q7Z572	.;SPT21_HUMAN	N	79;371;348	ENSP00000420753:S79N;ENSP00000335612:S371N;ENSP00000440046:S348N	ENSP00000335612:S371N	S	-	2	0	SPATA21	16599864	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.274000	0.01163	-0.678000	0.05224	-0.133000	0.14855	AGC		0.592	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2		NM_198546		17	209	0	0	0	0.004007	0	17	209		
HP1BP3	50809	broad.mit.edu	37	1	21103139	21103139	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:21103139C>T	ENST00000312239.5	-	4	440	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HP1BP3_ENST00000375000.1_Missense_Mutation_p.E101K|HP1BP3_ENST00000375003.2_5'Flank|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	101					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E101K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTCATTCTCAGGTTCCCCC	0.403																																						uc001bdw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(301-303)GAG>AAG		HP1-BP74							190.0	191.0	191.0					1																	21103139		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21103139C>T	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.301G>A	1.37:g.21103139C>T	ENSP00000312625:p.Glu101Lys					HP1BP3_uc001bdv.1_Missense_Mutation_p.E63K|HP1BP3_uc010odh.1_Missense_Mutation_p.E63K|HP1BP3_uc001bdy.1_Missense_Mutation_p.E101K|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E100K|HP1BP3_uc001beb.2_Missense_Mutation_p.E101K	p.E101K	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	4	441	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	101					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.301G>A	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247131	0.95305	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000438032;ENST00000424732;ENST00000417710;ENST00000375000	T;T;T	0.49432	0.78;1.8;1.82	6.07	6.07	0.98685	.	0.159761	0.53938	D	0.000044	T	0.45637	0.1352	N	0.24115	0.695	0.58432	D	0.999998	D;P;P	0.55385	0.971;0.868;0.455	P;B;B	0.47162	0.54;0.443;0.142	T	0.39781	-0.9597	10	0.52906	T	0.07	-21.3262	20.6439	0.99570	0.0:1.0:0.0:0.0	.	101;63;101	Q5SSJ5-5;Q5SSJ5-2;Q5SSJ5	.;.;HP1B3_HUMAN	K	101;63;101;63;101;101	ENSP00000312625:E101K;ENSP00000403039:E101K;ENSP00000402754:E63K	ENSP00000312625:E101K	E	-	1	0	HP1BP3	20975726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.681000	0.61663	2.884000	0.98904	0.655000	0.94253	GAG		0.403	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2		NM_016287		65	147	0	0	0	0.01441	0	65	147		
CELA3A	10136	broad.mit.edu	37	1	22336318	22336318	+	Missense_Mutation	SNP	C	C	G	rs148724731	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:22336318C>G	ENST00000290122.3	+	7	782	c.763C>G	c.(763-765)Cga>Gga	p.R255G	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.R255G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGTTCACTCGAGTCTCCGC	0.592																																						uc001bfl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(763-765)CGA>GGA		elastase 3A, pancreatic preproprotein		C	GLY/ARG	0,4406		0,0,2203	72.0	67.0	69.0		763	3.7	0.1	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELA3A	NM_005747.4	125	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077		255/271	22336318	1,13005	2203	4300	6503	SO:0001583	missense	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22336318C>G	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.763C>G	1.37:g.22336318C>G	ENSP00000290122:p.Arg255Gly						p.R255G	NM_005747	NP_005738	P09093	CEL3A_HUMAN			7	782	+			255			Peptidase S1.		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.763C>G	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566521	0.28003	0.0	1.16E-4	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.20738	2.05;2.05	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.49966	0.1588	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59883	-0.7370	9	0.87932	D	0	-24.0188	12.8948	0.58093	0.0:1.0:0.0:0.0	.	255	P09093	CEL3A_HUMAN	G	255;63	ENSP00000290122:R255G;ENSP00000383130:R63G	ENSP00000290122:R255G	R	+	1	2	CELA3A	22208905	0.863000	0.29885	0.082000	0.20525	0.015000	0.08874	1.726000	0.38085	1.856000	0.53863	0.455000	0.32223	CGA		0.592	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1		NM_005747		11	55	0	0	0	0.013537	0	11	55		
ARID1A	8289	broad.mit.edu	37	1	27102121	27102121	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:27102121G>C	ENST00000324856.7	+	19	5418	c.5047G>C	c.(5047-5049)Gag>Cag	p.E1683Q	ARID1A_ENST00000540690.1_Missense_Mutation_p.E11Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1466Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.E1300Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1683					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E1683Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCCTGGCAGAGAGCACATG	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		urinary_tract(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5047-5049)GAG>CAG		AT rich interactive domain 1A isoform a							134.0	106.0	115.0					1																	27102121		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27102121G>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5047G>C	1.37:g.27102121G>C	ENSP00000320485:p.Glu1683Gln					ARID1A_uc001bmt.1_Missense_Mutation_p.E1682Q|ARID1A_uc001bmu.1_Missense_Mutation_p.E1466Q|ARID1A_uc001bmx.1_Missense_Mutation_p.E529Q|ARID1A_uc009vsm.1_Missense_Mutation_p.E11Q|ARID1A_uc009vsn.1_5'UTR	p.E1683Q	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	19	5420	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1683					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5047G>C	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.019688|5.019688	0.93462|0.93462	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.34072|.	3.06;2.91;2.8;1.38|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78799|0.78799	0.4340|0.4340	M|M	0.80332|0.80332	2.49|2.49	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.997;0.997;0.994|.	T|T	0.79167|0.79167	-0.1915|-0.1915	10|5	0.87932|.	D|.	0|.	-13.5426|-13.5426	18.9294|18.9294	0.92558|0.92558	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1300;1683;1466;1336|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	Q|T	1683;1466;1300;11|579	ENSP00000320485:E1683Q;ENSP00000387636:E1466Q;ENSP00000363267:E1300Q;ENSP00000442437:E11Q|.	ENSP00000320485:E1683Q|.	E|R	+|+	1|2	0|0	ARID1A|ARID1A	26974708|26974708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	9.578000|9.578000	0.98200|0.98200	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		7	27	0	0	0	0.001984	0	7	27		
SPOCD1	90853	broad.mit.edu	37	1	32280503	32280503	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:32280503C>G	ENST00000360482.2	-	2	561	c.432G>C	c.(430-432)gaG>gaC	p.E144D	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.E144D|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E144D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	144					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.E144D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGAGCTCTCTCTGGGAGGC	0.592																																						uc001bts.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|breast(1)	6						c.(430-432)GAG>GAC		SPOC domain containing 1							65.0	73.0	70.0					1																	32280503		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280503C>G	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.432G>C	1.37:g.32280503C>G	ENSP00000353670:p.Glu144Asp					SPOCD1_uc001btu.2_Missense_Mutation_p.E144D|SPOCD1_uc001btv.2_Intron	p.E144D	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	490	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	144					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.432G>C	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941843	0.18281	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.34859	1.77;1.34;1.77	3.32	0.232	0.15381	.	.	.	.	.	T	0.13286	0.0322	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.29458	-1.0011	9	0.10636	T	0.68	-1.3675	1.8628	0.03192	0.2099:0.4656:0.2042:0.1203	.	144;144	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	D	144	ENSP00000353670:E144D;ENSP00000362752:E144D;ENSP00000435851:E144D	ENSP00000353670:E144D	E	-	3	2	SPOCD1	32053090	0.011000	0.17503	0.005000	0.12908	0.007000	0.05969	0.134000	0.15932	0.062000	0.16340	-0.127000	0.14921	GAG		0.592	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1		NM_144569		36	92	0	0	0	0.01441	0	36	92		
LCK	3932	broad.mit.edu	37	1	32742252	32742252	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:32742252C>A	ENST00000336890.5	+	9	967	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	LCK_ENST00000333070.4_Missense_Mutation_p.Q277K|LCK_ENST00000373564.3_Missense_Mutation_p.Q284K	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.Q284K(1)|p.Q277K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GAGCCTGAAGCAGGGCAGCAT	0.637			T	TRB@	T-ALL																																	uc001bux.2		NaN		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(829-831)CAG>AAG		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						91.0	78.0	82.0					1																	32742252		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32742252C>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.829C>A	1.37:g.32742252C>A	ENSP00000337825:p.Gln277Lys					LCK_uc001buy.2_Missense_Mutation_p.Q277K|LCK_uc001buz.2_Missense_Mutation_p.Q277K|LCK_uc010ohc.1_Missense_Mutation_p.Q321K|LCK_uc001bva.2_Missense_Mutation_p.Q284K	p.Q277K	NM_005356	NP_005347	P06239	LCK_HUMAN			9	967	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	277			Protein kinase.		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.829C>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	.	17.58	3.425143	0.62733	.	.	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000495610;ENST00000333070;ENST00000436824;ENST00000373564	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.44	4.48	0.54585	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.200607	0.33346	N	0.005001	T	0.65471	0.2694	N	0.02345	-0.59	0.36077	D	0.84251	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.10450	0.004;0.002;0.005;0.001	T	0.68591	-0.5368	10	0.59425	D	0.04	.	15.9477	0.79806	0.0:0.8649:0.135:0.0	.	321;284;277;277	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	K	277;17;226;277;321;284	ENSP00000337825:Q277K;ENSP00000435605:Q226K;ENSP00000328213:Q277K;ENSP00000362665:Q284K	ENSP00000328213:Q277K	Q	+	1	0	LCK	32514839	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	1.498000	0.35660	2.735000	0.93741	0.555000	0.69702	CAG		0.637	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4		NM_005356		16	58	1	0	2.23348e-06	0.004007	2.37504e-06	16	58		
RNF220	55182	broad.mit.edu	37	1	45115332	45115332	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:45115332G>A	ENST00000355387.2	+	13	1895		c.e13-1		TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000361799.2_Splice_Site|RNF220_ENST00000480686.1_Splice_Site|RNF220_ENST00000372247.2_Splice_Site|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Splice_Site			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTTTTTACAGAATCACCGAA	0.507																																						uc001clv.1		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(2)	2						c.e13-1		ring finger protein 220							126.0	120.0	122.0					1																	45115332		2203	4300	6503	SO:0001630	splice_region_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45115332G>A	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1446-1G>A	1.37:g.45115332G>A						RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron	p.K482_splice	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			13	1806	+								B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Splice_Site	SNP	ENST00000355387.2	37	c.1446_splice	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387487	0.61956	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000440132;ENST00000335497;ENST00000372248	.	.	.	5.15	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3721	0.49707	0.0893:0.0:0.9107:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF220	44887919	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	8.719000	0.91436	1.179000	0.42884	0.491000	0.48974	.		0.507	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4		NM_018150	Intron	8	124	0	0	0	0.00308	0	8	124		
TMEM53	79639	broad.mit.edu	37	1	45120468	45120468	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:45120468G>C	ENST00000372237.3	-	3	760	c.597C>G	c.(595-597)ttC>ttG	p.F199L	TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.F169L|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	199						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.F199L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCTGTCATAGAAGTGGGTGT	0.617																																						uc001cmc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(595-597)TTC>TTG		transmembrane protein 53							54.0	55.0	55.0					1																	45120468		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120468G>C		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.597C>G	1.37:g.45120468G>C	ENSP00000361311:p.Phe199Leu					TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.F126L|TMEM53_uc009vxh.1_Missense_Mutation_p.F82L|TMEM53_uc010ola.1_Missense_Mutation_p.F82L	p.F199L	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			3	633	-	Acute lymphoblastic leukemia(166;0.155)		199					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.597C>G	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781224	0.49891	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.93	5.93	0.95920	.	0.097617	0.64402	D	0.000001	T	0.54095	0.1837	L	0.46157	1.445	0.80722	D	1	P	0.45283	0.855	B	0.41988	0.372	T	0.47812	-0.9088	9	0.12766	T	0.61	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	199	Q6P2H8	TMM53_HUMAN	L	199;169	.	ENSP00000361309:F169L	F	-	3	2	TMEM53	44893055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.570000	0.53834	2.814000	0.96858	0.563000	0.77884	TTC		0.617	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1		NM_024587		10	41	0	0	0	0.008291	0	10	41		
ZFYVE9	9372	broad.mit.edu	37	1	52704276	52704276	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704276C>T	ENST00000371591.1	+	3	1318	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S396F|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S396F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	396					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.S396F(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTCTCTGAATCTCAGGACATG	0.368																																						uc001cto.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1186-1188)TCT>TTT		zinc finger, FYVE domain containing 9 isoform 3							73.0	72.0	72.0					1																	52704276		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704276C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1187C>T	1.37:g.52704276C>T	ENSP00000360647:p.Ser396Phe					ZFYVE9_uc001ctn.2_Missense_Mutation_p.S396F|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S396F	p.S396F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1359	+			396					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1187C>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176736	0.57692	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.61510	0.57;0.1;0.66;0.66	5.06	5.06	0.68205	.	0.273873	0.25744	N	0.028596	T	0.65186	0.2667	N	0.19112	0.55	0.38394	D	0.945473	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.87578	0.994;0.915;0.998	T	0.71836	-0.4472	10	0.72032	D	0.01	.	18.6301	0.91357	0.0:1.0:0.0:0.0	.	396;396;396	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	F	396	ENSP00000349737:S396F;ENSP00000355358:S396F;ENSP00000287727:S396F;ENSP00000360647:S396F	ENSP00000287727:S396F	S	+	2	0	ZFYVE9	52476864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.190000	0.65104	2.643000	0.89663	0.655000	0.94253	TCT		0.368	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		25	126	0	0	0	0.004656	0	25	126		
ZFYVE9	9372	broad.mit.edu	37	1	52704805	52704805	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704805C>T	ENST00000371591.1	+	3	1847	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	ZFYVE9_ENST00000357206.2_Silent_p.I572I|ZFYVE9_ENST00000287727.3_Silent_p.I572I	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	572					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.I572I(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGCCATCTATCAGTGTTCCTT	0.393																																						uc001cto.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1714-1716)ATC>ATT		zinc finger, FYVE domain containing 9 isoform 3							61.0	63.0	62.0					1																	52704805		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704805C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1716C>T	1.37:g.52704805C>T						ZFYVE9_uc001ctn.2_Silent_p.I572I|ZFYVE9_uc001ctp.2_Silent_p.I572I	p.I572I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1888	+			572					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.1716C>T	CCDS563.1																																																																																				0.393	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		15	87	0	0	0	0.003163	0	15	87		
ZFYVE9	9372	broad.mit.edu	37	1	52704876	52704876	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704876C>T	ENST00000371591.1	+	3	1918	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S596L|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S596L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	596					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.S596L(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGCCATTATCAGACCATTTA	0.378																																						uc001cto.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1786-1788)TCA>TTA		zinc finger, FYVE domain containing 9 isoform 3							47.0	47.0	47.0					1																	52704876		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704876C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1787C>T	1.37:g.52704876C>T	ENSP00000360647:p.Ser596Leu					ZFYVE9_uc001ctn.2_Missense_Mutation_p.S596L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S596L	p.S596L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1959	+			596					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1787C>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742864	0.30865	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.57273	0.9;0.41;0.95;0.95	5.4	5.4	0.78164	.	0.000000	0.52532	D	0.000063	T	0.42268	0.1195	L	0.27053	0.805	0.40310	D	0.978704	B;B;B	0.31769	0.01;0.007;0.339	B;B;B	0.33620	0.009;0.01;0.167	T	0.42481	-0.9449	10	0.52906	T	0.07	.	13.622	0.62143	0.0:0.9264:0.0:0.0736	.	596;596;596	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	L	596	ENSP00000349737:S596L;ENSP00000355358:S596L;ENSP00000287727:S596L;ENSP00000360647:S596L	ENSP00000287727:S596L	S	+	2	0	ZFYVE9	52477464	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.457000	0.53007	2.805000	0.96524	0.655000	0.94253	TCA		0.378	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		12	77	0	0	0	0.010729	0	12	77		
ZFYVE9	9372	broad.mit.edu	37	1	52705008	52705008	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52705008C>G	ENST00000371591.1	+	3	2050	c.1919C>G	c.(1918-1920)tCt>tGt	p.S640C	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S640C|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.S640C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	640					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.S640C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGAAACATCTCTAATGTCGAT	0.378																																						uc001cto.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1918-1920)TCT>TGT		zinc finger, FYVE domain containing 9 isoform 3							102.0	102.0	102.0					1																	52705008		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52705008C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1919C>G	1.37:g.52705008C>G	ENSP00000360647:p.Ser640Cys					ZFYVE9_uc001ctn.2_Missense_Mutation_p.S640C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S640C	p.S640C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	2091	+			640					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1919C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068334	0.36470	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.56444	0.94;0.46;0.98;0.98	5.08	5.08	0.68730	.	0.098719	0.43919	D	0.000517	T	0.52677	0.1749	N	0.19112	0.55	0.33656	D	0.609074	D;D;P	0.62365	0.989;0.991;0.655	P;P;B	0.53313	0.723;0.706;0.178	T	0.64736	-0.6337	10	0.66056	D	0.02	.	19.0361	0.92978	0.0:1.0:0.0:0.0	.	640;640;640	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	C	640	ENSP00000349737:S640C;ENSP00000355358:S640C;ENSP00000287727:S640C;ENSP00000360647:S640C	ENSP00000287727:S640C	S	+	2	0	ZFYVE9	52477596	1.000000	0.71417	0.989000	0.46669	0.595000	0.36748	4.171000	0.58236	2.805000	0.96524	0.655000	0.94253	TCT		0.378	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		25	113	0	0	0	0.003954	0	25	113		
ZFYVE9	9372	broad.mit.edu	37	1	52705108	52705108	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52705108C>T	ENST00000371591.1	+	3	2150	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	ZFYVE9_ENST00000357206.2_Silent_p.L673L|ZFYVE9_ENST00000287727.3_Silent_p.L673L	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	673					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.L673L(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATAATGATCTCAGAGCTGGTC	0.468																																						uc001cto.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(2017-2019)CTC>CTT		zinc finger, FYVE domain containing 9 isoform 3							104.0	100.0	102.0					1																	52705108		2203	4299	6502	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52705108C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2019C>T	1.37:g.52705108C>T						ZFYVE9_uc001ctn.2_Silent_p.L673L|ZFYVE9_uc001ctp.2_Silent_p.L673L	p.L673L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	2191	+			673					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.2019C>T	CCDS563.1																																																																																				0.468	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324		21	126	0	0	0	0.00278	0	21	126		
ZCCHC11	23318	broad.mit.edu	37	1	52940613	52940613	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940613G>T	ENST00000371544.3	-	13	2880	c.2618C>A	c.(2617-2619)tCt>tAt	p.S873Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S873Y|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	873					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S873Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCAGTTGCAAGAGGTAGCAGA	0.413																																						uc001ctx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2617-2619)TCT>TAT		zinc finger, CCHC domain containing 11 isoform							91.0	83.0	86.0					1																	52940613		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940613G>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2618C>A	1.37:g.52940613G>T	ENSP00000360599:p.Ser873Tyr					ZCCHC11_uc001cty.2_Missense_Mutation_p.S873Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S873Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.S873Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S632Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.S873Y	p.S873Y	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2852	-			873					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2618C>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347383	0.82022	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.50813	0.74;0.75;0.74;0.73	5.64	5.64	0.86602	.	0.234802	0.45126	D	0.000389	T	0.59115	0.2170	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.66196	0.942;0.903	T	0.56733	-0.7930	10	0.44086	T	0.13	.	19.6815	0.95965	0.0:0.0:1.0:0.0	.	632;873	E9PKX1;Q5TAX3	.;TUT4_HUMAN	Y	873;873;802;632	ENSP00000257177:S873Y;ENSP00000360599:S873Y;ENSP00000433486:S802Y;ENSP00000435256:S632Y	ENSP00000257177:S873Y	S	-	2	0	ZCCHC11	52713201	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.260000	0.78391	2.651000	0.90000	0.557000	0.71058	TCT		0.413	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		10	72	1	0	1.58986e-06	0.008291	1.69461e-06	10	72		
ZCCHC11	23318	broad.mit.edu	37	1	52940833	52940833	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940833G>T	ENST00000371544.3	-	13	2660	c.2398C>A	c.(2398-2400)Ctt>Att	p.L800I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L800I|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	800					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.L800I(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTGGTAGAAAGAGATGAAGAG	0.363																																						uc001ctx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2398-2400)CTT>ATT		zinc finger, CCHC domain containing 11 isoform							149.0	149.0	149.0					1																	52940833		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940833G>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2398C>A	1.37:g.52940833G>T	ENSP00000360599:p.Leu800Ile					ZCCHC11_uc001cty.2_Missense_Mutation_p.L800I|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L800I|ZCCHC11_uc009vze.1_Missense_Mutation_p.L800I|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L559I|ZCCHC11_uc001cub.2_Missense_Mutation_p.L800I	p.L800I	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2632	-			800					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2398C>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911321	0.33721	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.45668	0.89;0.89;0.9;0.89	5.16	3.2	0.36748	.	0.277189	0.25578	N	0.029704	T	0.24160	0.0585	L	0.27053	0.805	0.80722	D	1	P;P	0.48764	0.454;0.915	B;B	0.31946	0.105;0.138	T	0.02404	-1.1164	10	0.18710	T	0.47	.	15.5129	0.75798	0.0:0.2624:0.7376:0.0	.	559;800	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	800;800;729;559	ENSP00000257177:L800I;ENSP00000360599:L800I;ENSP00000433486:L729I;ENSP00000435256:L559I	ENSP00000257177:L800I	L	-	1	0	ZCCHC11	52713421	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.648000	0.46647	0.624000	0.30286	0.557000	0.71058	CTT		0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		13	218	1	0	0.000308642	0.003163	0.000320676	13	218		
ZCCHC11	23318	broad.mit.edu	37	1	52940841	52940841	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940841G>C	ENST00000371544.3	-	13	2652	c.2390C>G	c.(2389-2391)tCt>tGt	p.S797C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S797C|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	797					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S797C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAGAGATGAAGAGTCCTGTCC	0.358																																						uc001ctx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2389-2391)TCT>TGT		zinc finger, CCHC domain containing 11 isoform							156.0	155.0	155.0					1																	52940841		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52940841G>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2390C>G	1.37:g.52940841G>C	ENSP00000360599:p.Ser797Cys					ZCCHC11_uc001cty.2_Missense_Mutation_p.S797C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S797C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S797C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S556C|ZCCHC11_uc001cub.2_Missense_Mutation_p.S797C	p.S797C	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			13	2624	-			797					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.2390C>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952684	0.53293	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.47528	0.84;0.85;0.86;0.85	5.16	1.98	0.26296	.	0.305828	0.24635	N	0.036841	T	0.33381	0.0861	N	0.24115	0.695	0.80722	D	1	D;P	0.59357	0.985;0.947	B;B	0.43754	0.43;0.408	T	0.09228	-1.0684	10	0.45353	T	0.12	.	10.8399	0.46708	0.0:0.2613:0.6036:0.1351	.	556;797	E9PKX1;Q5TAX3	.;TUT4_HUMAN	C	797;797;726;556	ENSP00000257177:S797C;ENSP00000360599:S797C;ENSP00000433486:S726C;ENSP00000435256:S556C	ENSP00000257177:S797C	S	-	2	0	ZCCHC11	52713429	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	3.896000	0.56266	0.643000	0.30638	0.557000	0.71058	TCT		0.358	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1		XM_038288		13	225	0	0	0	0.00245	0	13	225		
EXTL2	2135	broad.mit.edu	37	1	101339508	101339508	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:101339508C>G	ENST00000370114.3	-	5	2419	c.983G>C	c.(982-984)aGa>aCa	p.R328T	EXTL2_ENST00000370113.3_Missense_Mutation_p.R328T|EXTL2_ENST00000535414.1_Missense_Mutation_p.R315T	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	328					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.R328T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTATATTTTTCTTTTGTAGTT	0.299																																						uc001dtk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(982-984)AGA>ACA		exostoses-like 2							47.0	51.0	50.0					1																	101339508		2201	4293	6494	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339508C>G	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.983G>C	1.37:g.101339508C>G	ENSP00000359132:p.Arg328Thr					EXTL2_uc001dtl.1_Missense_Mutation_p.R328T|EXTL2_uc010ouk.1_Missense_Mutation_p.R315T|EXTL2_uc001dtm.1_Missense_Mutation_p.R327T	p.R328T	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	1320	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	328			Lumenal (Potential).		B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.983G>C	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143131	0.37825	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	D;D;D	0.81739	-1.53;-1.53;-1.53	5.95	5.95	0.96441	.	0.304232	0.43919	D	0.000504	T	0.46151	0.1378	N	0.08118	0	0.23572	N	0.99739	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28106	-1.0054	10	0.59425	D	0.04	-17.6021	8.6189	0.33849	0.0:0.7464:0.1386:0.115	.	327;328	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	T	328;328;315	ENSP00000359132:R328T;ENSP00000359131:R328T;ENSP00000444385:R315T	ENSP00000359131:R328T	R	-	2	0	EXTL2	101112096	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.873000	0.39558	2.826000	0.97356	0.563000	0.77884	AGA		0.299	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1		NM_001439		11	97	0	0	0	0.010729	0	11	97		
MTMR11	10903	broad.mit.edu	37	1	149906110	149906110	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:149906110G>A	ENST00000439741.2	-	7	907	c.657C>T	c.(655-657)gtC>gtT	p.V219V	MTMR11_ENST00000361405.6_Silent_p.V219V|MTMR11_ENST00000406732.3_Silent_p.V191V|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Silent_p.V147V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	219	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.V219V(1)|p.V147V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTCTCGTTGACCGTGCTGA	0.572																																						uc001etl.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(655-657)GTC>GTT		myotubularin related protein 11 isoform a							93.0	89.0	90.0					1																	149906110		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149906110G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.657C>T	1.37:g.149906110G>A						MTMR11_uc001etm.1_Silent_p.V147V|MTMR11_uc010pbm.1_Silent_p.V191V|MTMR11_uc010pbn.1_Silent_p.V61V	p.V219V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		7	908	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		219			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.657C>T	CCDS53360.1																																																																																				0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873		12	106	0	0	0	0.010729	0	12	106		
PRPF3	9129	broad.mit.edu	37	1	150325402	150325402	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:150325402G>A	ENST00000324862.6	+	16	2164	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E618K	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	667					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E667K(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCATGGGGCTGAACACTACTG	0.488																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1999-2001)GAA>AAA		PRP3 pre-mRNA processing factor 3 homolog							145.0	140.0	141.0					1																	150325402		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150325402G>A	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1999G>A	1.37:g.150325402G>A	ENSP00000315379:p.Glu667Lys					PRPF3_uc010pca.1_Missense_Mutation_p.E626K|PRPF3_uc010pcb.1_Missense_Mutation_p.E618K	p.E667K	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	16	2161	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		667					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1999G>A	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722249	0.96839	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	T;T	0.79845	-1.31;-1.28	5.7	5.7	0.88788	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77004	0.984;0.989	D	0.89448	0.3728	10	0.62326	D	0.03	-16.4163	19.8314	0.96638	0.0:0.0:1.0:0.0	.	618;667	E7EVD1;O43395	.;PRPF3_HUMAN	K	667;618	ENSP00000315379:E667K;ENSP00000387844:E618K	ENSP00000315379:E667K	E	+	1	0	PRPF3	148592026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.468000	0.97676	2.691000	0.91804	0.573000	0.79308	GAA		0.488	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1		NM_004698		11	135	0	0	0	0.008291	0	11	135		
TCHH	7062	broad.mit.edu	37	1	152082180	152082180	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152082180G>C	ENST00000368804.1	-	2	3512	c.3513C>G	c.(3511-3513)cgC>cgG	p.R1171R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1171	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1171R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cctcttcctcGCGGTATTGCC	0.607																																						uc001ezp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3511-3513)CGC>CGG		trichohyalin							74.0	72.0	73.0					1																	152082180		2000	4173	6173	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082180G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3513C>G	1.37:g.152082180G>C						TCHH_uc009wne.1_Silent_p.R1171R	p.R1171R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3513	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1171			4-9.|10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3513C>G	CCDS41396.1																																																																																				0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		6	55	0	0	0	0.001984	0	6	55		
TCHH	7062	broad.mit.edu	37	1	152085383	152085383	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152085383C>T	ENST00000368804.1	-	2	309	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.D104N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTTCCGTCACACCGGGCT	0.522																																						uc001ezp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(310-312)GAC>AAC		trichohyalin							132.0	129.0	130.0					1																	152085383		1943	4143	6086	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085383C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.310G>A	1.37:g.152085383C>T	ENSP00000357794:p.Asp104Asn					TCHH_uc009wne.1_Missense_Mutation_p.D104N	p.D104N	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	310	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		104					Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.310G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	c	4.753	0.140114	0.09083	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	5.01	4.09	0.47781	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.18873	N	0.999985	B	0.18166	0.026	B	0.14578	0.011	T	0.47935	-0.9078	9	0.34782	T	0.22	-0.8283	10.3877	0.44150	0.0:0.9033:0.0:0.0967	.	104	Q07283	TRHY_HUMAN	N	104	ENSP00000357794:D104N	ENSP00000357794:D104N	D	-	1	0	TCHH	150352007	0.002000	0.14202	0.021000	0.16686	0.014000	0.08584	0.642000	0.24735	1.307000	0.44944	0.552000	0.68991	GAC		0.522	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		20	170	0	0	0	0.010504	0	20	170		
FLG	2312	broad.mit.edu	37	1	152275916	152275916	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152275916C>G	ENST00000368799.1	-	3	11481	c.11446G>C	c.(11446-11448)Gag>Cag	p.E3816Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3816	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E3816Q(1)|p.E3816K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCCTCATTACGTGTT	0.577									Ichthyosis																													uc001ezu.1		NaN																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|urinary_tract(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11446-11448)GAG>CAG		filaggrin							368.0	360.0	363.0					1																	152275916		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275916C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11446G>C	1.37:g.152275916C>G	ENSP00000357789:p.Glu3816Gln						p.E3816Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11482	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3816			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11446G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.925	0.739457	0.15642	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.38	-1.53	0.08611	.	.	.	.	.	T	0.00815	0.0027	N	0.20986	0.625	0.09310	N	1	D	0.57899	0.981	D	0.65140	0.932	T	0.38265	-0.9669	9	0.15499	T	0.54	.	1.1463	0.01776	0.1516:0.2245:0.4063:0.2177	.	3816	P20930	FILA_HUMAN	Q	3816	ENSP00000357789:E3816Q	ENSP00000357789:E3816Q	E	-	1	0	FLG	150542540	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.823000	0.27366	-0.485000	0.06754	-0.275000	0.10095	GAG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		8	612	0	0	0	0.00308	0	8	612		
FLG	2312	broad.mit.edu	37	1	152285757	152285757	+	Silent	SNP	C	C	T	rs368243694		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152285757C>T	ENST00000368799.1	-	3	1640	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	535	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S535S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATTTACCGATTGCTCGT	0.582									Ichthyosis																													uc001ezu.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1603-1605)TCG>TCA		filaggrin		C		0,4406		0,0,2203	363.0	358.0	360.0		1605	-6.3	0.0	1		360	1,8599		0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		535/4062	152285757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285757C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1605G>A	1.37:g.152285757C>T						uc001ezv.2_5'Flank	p.S535S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1641	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		535			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.1605G>A	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		89	479	0	0	0	0.01441	0	89	479		
OR6K6	128371	broad.mit.edu	37	1	158724630	158724630	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:158724630C>G	ENST00000368144.2	+	1	121	c.25C>G	c.(25-27)Caa>Gaa	p.Q9E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q9E(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AGTGGGTAATCAACATTCCAA	0.393																																						uc001fsw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(25-27)CAA>GAA		olfactory receptor, family 6, subfamily K,							137.0	139.0	139.0					1																	158724630		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724630C>G	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.25C>G	1.37:g.158724630C>G	ENSP00000357126:p.Gln9Glu						p.Q9E	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	25	+	all_hematologic(112;0.0378)		9			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.25C>G	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.232002	0.22626	.	.	ENSG00000180433	ENST00000368144	T	0.00287	8.29	4.7	-4.49	0.03504	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.01972	-1.1237	9	0.30078	T	0.28	.	5.8602	0.18743	0.0:0.3732:0.232:0.3948	.	9	Q8NGW6	OR6K6_HUMAN	E	9	ENSP00000357126:Q9E	ENSP00000357126:Q9E	Q	+	1	0	OR6K6	156991254	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.646000	0.05403	-1.299000	0.02344	-0.136000	0.14681	CAA		0.393	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2		NM_001005184		21	128	0	0	0	0.010504	0	21	128		
MNDA	4332	broad.mit.edu	37	1	158813830	158813830	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:158813830G>A	ENST00000368141.4	+	4	749	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	163					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G163E(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGTCCCTCAGGAGCCAGCACA	0.483																																						uc001fsz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(487-489)GGA>GAA		myeloid cell nuclear differentiation antigen							234.0	195.0	208.0					1																	158813830		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158813830G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.488G>A	1.37:g.158813830G>A	ENSP00000357123:p.Gly163Glu						p.G163E	NM_002432	NP_002423	P41218	MNDA_HUMAN			4	688	+	all_hematologic(112;0.0378)		163						Missense_Mutation	SNP	ENST00000368141.4	37	c.488G>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	g	0.064	-1.216674	0.01542	.	.	ENSG00000163563	ENST00000368141	T	0.04758	3.56	2.55	-5.1	0.02911	.	2.181350	0.02600	N	0.100962	T	0.00784	0.0026	L	0.28458	0.855	0.09310	N	1	B	0.27997	0.197	B	0.25884	0.064	T	0.39941	-0.9589	10	0.15499	T	0.54	5.854	4.6118	0.12406	0.3847:0.0:0.1457:0.4696	.	163	P41218	MNDA_HUMAN	E	163	ENSP00000357123:G163E	ENSP00000357123:G163E	G	+	2	0	MNDA	157080454	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.631000	0.02026	-3.198000	0.00218	-0.964000	0.02622	GGA		0.483	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1		NM_002432		10	143	0	0	0	0.010729	0	10	143		
KIFAP3	22920	broad.mit.edu	37	1	169993598	169993598	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:169993598C>G	ENST00000361580.2	-	9	1208	c.981G>C	c.(979-981)ttG>ttC	p.L327F	KIFAP3_ENST00000540905.1_Missense_Mutation_p.L29F|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367765.1_Missense_Mutation_p.L287F|KIFAP3_ENST00000538366.1_Missense_Mutation_p.L249F|KIFAP3_ENST00000367767.1_Missense_Mutation_p.L283F	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	327					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.L327F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGTTTCTTCAAGAATGACA	0.323																																						uc001ggv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(979-981)TTG>TTC		kinesin-associated protein 3							58.0	60.0	59.0					1																	169993598		2202	4299	6501	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169993598C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.981G>C	1.37:g.169993598C>G	ENSP00000354560:p.Leu327Phe					KIFAP3_uc010plx.1_Missense_Mutation_p.L29F	p.L327F	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			9	1252	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		327					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.981G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508083	0.64410	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	6.02	2.55	0.30701	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78438	0.4283	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.79720	-0.1685	9	.	.	.	-10.8358	9.5855	0.39514	0.0:0.6481:0.0:0.3519	.	327	Q92845	KIFA3_HUMAN	F	327;287;283;29;249	ENSP00000354560:L327F;ENSP00000356739:L287F;ENSP00000356741:L283F;ENSP00000442712:L29F;ENSP00000444622:L249F	.	L	-	3	2	KIFAP3	168260222	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.538000	0.23160	0.740000	0.32651	-0.145000	0.13849	TTG		0.323	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1		NM_014970		4	103	0	0	0	0.000602	0	4	103		
FMO3	2328	broad.mit.edu	37	1	171083188	171083188	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:171083188C>T	ENST00000367755.4	+	7	980	c.869C>T	c.(868-870)gCa>gTa	p.A290V	FMO3_ENST00000538429.1_Missense_Mutation_p.A227V|FMO3_ENST00000542847.1_Missense_Mutation_p.A270V|FMO3_ENST00000392085.2_Missense_Mutation_p.A290V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	290					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.A290V(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAGCTCCCAGCAAGCATTCTG	0.433																																						uc001ghi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(868-870)GCA>GTA		flavin containing monooxygenase 3							102.0	91.0	95.0					1																	171083188		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083188C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.869C>T	1.37:g.171083188C>T	ENSP00000356729:p.Ala290Val					FMO3_uc001ghh.2_Missense_Mutation_p.A290V|FMO3_uc010pmb.1_Missense_Mutation_p.A270V|FMO3_uc010pmc.1_Missense_Mutation_p.A227V	p.A290V	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			7	980	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		290					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.869C>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880478	0.33255	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	4.73	3.75	0.43078	.	0.330102	0.35936	N	0.002886	T	0.38746	0.1052	L	0.52905	1.665	0.09310	N	1	D;P;P	0.55385	0.971;0.523;0.578	P;P;P	0.57846	0.828;0.457;0.507	T	0.29579	-1.0007	10	0.22706	T	0.39	-15.7418	3.0569	0.06187	0.2763:0.4842:0.1486:0.0909	.	227;270;290	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	290;290;270;227	ENSP00000356729:A290V;ENSP00000375935:A290V;ENSP00000444073:A270V;ENSP00000439500:A227V	ENSP00000356729:A290V	A	+	2	0	FMO3	169349812	0.000000	0.05858	0.687000	0.30102	0.005000	0.04900	-0.494000	0.06451	2.305000	0.77605	0.650000	0.86243	GCA		0.433	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		26	61	0	0	0	0.005443	0	26	61		
CEP350	9857	broad.mit.edu	37	1	179989859	179989859	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:179989859G>A	ENST00000367607.3	+	12	3368	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	984					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E984K(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCAGTCAGTGAAGGGCCTCT	0.428																																						uc001gnt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)	4						c.(2950-2952)GAA>AAA		centrosome-associated protein 350							116.0	126.0	122.0					1																	179989859		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989859G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2950G>A	1.37:g.179989859G>A	ENSP00000356579:p.Glu984Lys					CEP350_uc009wxl.2_Missense_Mutation_p.E983K|CEP350_uc001gnu.2_Missense_Mutation_p.E818K	p.E984K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	3333	+			984					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2950G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130456	0.94473	.	.	ENSG00000135837	ENST00000367607	T	0.23147	1.92	6.02	6.02	0.97574	.	0.144429	0.32161	N	0.006492	T	0.43077	0.1231	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.03673	-1.1014	9	.	.	.	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	984;984	E7EU22;Q5VT06	.;CE350_HUMAN	K	984	ENSP00000356579:E984K	.	E	+	1	0	CEP350	178256482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.254000	0.78329	2.865000	0.98341	0.655000	0.94253	GAA		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		11	182	0	0	0	0.010729	0	11	182		
CEP350	9857	broad.mit.edu	37	1	179989968	179989968	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:179989968G>C	ENST00000367607.3	+	12	3477	c.3059G>C	c.(3058-3060)gGa>gCa	p.G1020A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1020					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G1020A(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTTGTCCTGGAGAAAGAAAT	0.408																																						uc001gnt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)	4						c.(3058-3060)GGA>GCA		centrosome-associated protein 350							33.0	39.0	37.0					1																	179989968		2200	4300	6500	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989968G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3059G>C	1.37:g.179989968G>C	ENSP00000356579:p.Gly1020Ala					CEP350_uc009wxl.2_Missense_Mutation_p.G1019A|CEP350_uc001gnu.2_Missense_Mutation_p.G854A	p.G1020A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	3442	+			1020					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.3059G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	7.513	0.655140	0.14580	.	.	ENSG00000135837	ENST00000367607	T	0.30448	1.53	5.9	5.9	0.94986	.	0.000000	0.45867	D	0.000339	T	0.18341	0.0440	N	0.20986	0.625	0.36825	D	0.88659	P;P	0.43094	0.799;0.495	B;B	0.33339	0.162;0.077	T	0.13098	-1.0522	9	.	.	.	.	13.4197	0.60989	0.0:0.0:0.7306:0.2694	.	1020;1020	E7EU22;Q5VT06	.;CE350_HUMAN	A	1020	ENSP00000356579:G1020A	.	G	+	2	0	CEP350	178256591	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.280000	0.43443	2.806000	0.96561	0.655000	0.94253	GGA		0.408	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		8	77	0	0	0	0.00308	0	8	77		
HMCN1	83872	broad.mit.edu	37	1	186088322	186088322	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:186088322G>A	ENST00000271588.4	+	78	12077		c.e78-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCATTTTTAGGAGCAATTGA	0.373																																						uc001grq.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(22)|skin(1)	23						c.e78-1		hemicentin 1 precursor							69.0	69.0	69.0					1																	186088322		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088322G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11849-1G>A	1.37:g.186088322G>A							p.G3950_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			78	12078	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.11849_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642523	0.87859	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184354945	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	8.629000	0.90983	2.563000	0.86464	0.585000	0.79938	.		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	Intron	36	109	0	0	0	0.003271	0	36	109		
TPR	7175	broad.mit.edu	37	1	186319407	186319407	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:186319407G>C	ENST00000367478.4	-	21	3020	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	908					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.L908L(1)|p.L909L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCATATTACTGAGGTGCTGTT	0.318			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2722-2724)CTC>CTG		nuclear pore complex-associated protein TPR							194.0	177.0	182.0					1																	186319407		1832	4083	5915	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186319407G>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2724C>G	1.37:g.186319407G>C							p.L908L	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	21	3021	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	908			Potential.		Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.2724C>G	CCDS41446.1																																																																																				0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		19	100	0	0	0	0.012319	0	19	100		
PTPRC	5788	broad.mit.edu	37	1	198701513	198701513	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:198701513C>T	ENST00000367376.2	+	19	2224	c.2053C>T	c.(2053-2055)Ctt>Ttt	p.L685F	PTPRC_ENST00000348564.6_Missense_Mutation_p.L526F|PTPRC_ENST00000352140.3_Missense_Mutation_p.L637F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L524F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L687F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	685	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L685F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGTTGACATTCTTCCTTGTGA	0.358																																						uc001gur.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2053-2055)CTT>TTT		protein tyrosine phosphatase, receptor type, C							110.0	110.0	110.0					1																	198701513		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198701513C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2053C>T	1.37:g.198701513C>T	ENSP00000356346:p.Leu685Phe					PTPRC_uc001gus.1_Missense_Mutation_p.L637F|PTPRC_uc001gut.1_Missense_Mutation_p.L524F|PTPRC_uc009wzf.1_Missense_Mutation_p.L573F|PTPRC_uc010ppg.1_Missense_Mutation_p.L621F	p.L685F	NM_002838	NP_002829	P08575	PTPRC_HUMAN			19	2233	+			685			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2053C>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.713302	0.89112	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.14022	2.54	5.68	5.68	0.88126	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.44097	D	0.000494	T	0.36193	0.0958	M	0.70903	2.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.04090	-1.0978	10	0.72032	D	0.01	.	13.0496	0.58948	0.0:0.9265:0.0:0.0735	.	621;621;526;637;685	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	F	687;621;637;637;571;685;619;524	ENSP00000193532:L637F	ENSP00000306782:L524F	L	+	1	0	PTPRC	196968136	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	4.908000	0.63307	2.660000	0.90430	0.655000	0.94253	CTT		0.358	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding					6	72	0	0	0	0.001168	0	6	72		
IL20	50604	broad.mit.edu	37	1	207039849	207039849	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:207039849C>A	ENST00000367098.1	+	4	609	c.246C>A	c.(244-246)ctC>ctA	p.L82L	IL20_ENST00000391930.2_Silent_p.L82L|IL20_ENST00000367096.3_Silent_p.L82L			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.L82L(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GATGCTGCCTCCTGCGCCATT	0.512																																						uc001her.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(244-246)CTC>CTA		interleukin 20 precursor							278.0	290.0	286.0					1																	207039849		2203	4300	6503	SO:0001819	synonymous_variant	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207039849C>A	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.246C>A	1.37:g.207039849C>A						IL20_uc010pry.1_Silent_p.L153L|IL20_uc009xby.2_Silent_p.L82L	p.L82L	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	3	290	+	Breast(84;0.201)		82					Q14CE5	Silent	SNP	ENST00000367098.1	37	c.246C>A	CCDS1470.1																																																																																				0.512	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1		NM_018724		30	541	1	0	3.90053e-15	0.012213	4.22713e-15	30	541		
LAMB3	3914	broad.mit.edu	37	1	209823311	209823311	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:209823311C>G	ENST00000356082.4	-	3	315	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	LAMB3_ENST00000391911.1_Missense_Mutation_p.E61Q|LAMB3_ENST00000367030.3_Missense_Mutation_p.E61Q	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	61	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E61Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGCCTACCTCGCCATACTGG	0.567																																						uc001hhg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(181-183)GAG>CAG		laminin, beta 3 precursor							76.0	67.0	70.0					1																	209823311		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209823311C>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.181G>C	1.37:g.209823311C>G	ENSP00000348384:p.Glu61Gln					LAMB3_uc009xco.2_Missense_Mutation_p.E61Q|LAMB3_uc001hhh.2_Missense_Mutation_p.E61Q|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.E61Q	p.E61Q	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	2	571	-			61			Laminin N-terminal.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.181G>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259009	0.23051	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.39	4.46	0.54185	Laminin, N-terminal (3);	0.121317	0.56097	N	0.000030	T	0.61248	0.2332	N	0.17800	0.525	0.41310	D	0.987109	B;B	0.34103	0.18;0.437	B;B	0.35353	0.12;0.201	T	0.59005	-0.7535	10	0.27082	T	0.32	.	14.7225	0.69317	0.0:0.8486:0.1514:0.0	.	61;61	B4DL55;Q13751	.;LAMB3_HUMAN	Q	61	ENSP00000375778:E61Q;ENSP00000348384:E61Q;ENSP00000355997:E61Q;ENSP00000388960:E61Q	ENSP00000348384:E61Q	E	-	1	0	LAMB3	207889934	0.899000	0.30636	0.985000	0.45067	0.752000	0.42762	1.448000	0.35112	1.240000	0.43803	0.650000	0.86243	GAG		0.567	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2		NM_000228		3	55	0	0	0	0.004672	0	3	55		
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:215256745C>G	ENST00000444842.2	+	1	167	c.17C>G	c.(16-18)tCg>tGg	p.S6W	KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	6					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.S6W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CCCAGCGCCTCGCGGGAGAGA	0.547																																						uc001hkq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(16-18)TCG>TGG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						67.0	76.0	73.0					1																	215256745		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215256745C>G	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.17C>G	1.37:g.215256745C>G	ENSP00000394033:p.Ser6Trp					KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron	p.S6W	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	1	186	+			6			Cytoplasmic (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.17C>G	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113103	0.37339	.	.	ENSG00000082482	ENST00000444842	T	0.22743	1.94	4.27	1.18	0.20946	.	0.933707	0.08889	N	0.878957	T	0.28034	0.0691	N	0.22421	0.69	0.36932	D	0.891933	D	0.59767	0.986	P	0.59221	0.854	T	0.25328	-1.0135	10	0.66056	D	0.02	.	11.786	0.52043	0.0:0.4634:0.5366:0.0	.	6	O95069	KCNK2_HUMAN	W	6	ENSP00000394033:S6W	ENSP00000394033:S6W	S	+	2	0	KCNK2	213323368	0.083000	0.21467	0.998000	0.56505	0.998000	0.95712	0.229000	0.17833	0.061000	0.16311	0.655000	0.94253	TCG		0.547	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2		NM_014217		5	85	0	0	0	0.001984	0	5	85		
USH2A	7399	broad.mit.edu	37	1	215963529	215963529	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:215963529C>T	ENST00000307340.3	-	51	10440	c.10054G>A	c.(10054-10056)Gac>Aac	p.D3352N	USH2A_ENST00000366943.2_Missense_Mutation_p.D3352N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3352					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D3352N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCACCGGGTCATTCTTTTTA	0.403										HNSCC(13;0.011)																												uc001hku.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10054-10056)GAC>AAC		usherin isoform B							129.0	122.0	124.0					1																	215963529		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963529C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10054G>A	1.37:g.215963529C>T	ENSP00000305941:p.Asp3352Asn	HNSCC(13;0.011)					p.D3352N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10441	-			3352			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10054G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968148	0.34754	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13089	2.63;2.62	5.63	4.72	0.59763	Fibronectin, type III (2);	0.000000	0.47455	D	0.000222	T	0.11665	0.0284	L	0.41824	1.3	0.29167	N	0.877401	B	0.12630	0.006	B	0.08055	0.003	T	0.10730	-1.0617	10	0.27082	T	0.32	.	10.7787	0.46365	0.0:0.8561:0.0:0.1439	.	3352	O75445	USH2A_HUMAN	N	3352	ENSP00000305941:D3352N;ENSP00000355910:D3352N	ENSP00000305941:D3352N	D	-	1	0	USH2A	214030152	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	2.169000	0.42434	1.379000	0.46325	0.655000	0.94253	GAC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		8	170	0	0	0	0.00308	0	8	170		
ADCK3	56997	broad.mit.edu	37	1	227171276	227171276	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:227171276C>G	ENST00000366779.1	+	14	3875	c.1104C>G	c.(1102-1104)atC>atG	p.I368M	ADCK3_ENST00000433743.2_Missense_Mutation_p.I42M|ADCK3_ENST00000366778.1_Missense_Mutation_p.I316M|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Missense_Mutation_p.I89M|ADCK3_ENST00000366777.3_Missense_Mutation_p.I368M			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	368	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I368M(1)|p.I89M(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCCAGAGCATCAACAGTGATG	0.622																																						uc001hqm.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1102-1104)ATC>ATG		chaperone, ABC1 activity of bc1 complex like							92.0	75.0	81.0					1																	227171276		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227171276C>G	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1104C>G	1.37:g.227171276C>G	ENSP00000355741:p.Ile368Met					CABC1_uc001hqn.1_Missense_Mutation_p.I368M|CABC1_uc009xeq.1_Missense_Mutation_p.I316M|CABC1_uc010pvq.1_Missense_Mutation_p.I89M|CABC1_uc010pvr.1_Missense_Mutation_p.I42M|CABC1_uc001hqo.1_Missense_Mutation_p.I89M|CABC1_uc009xer.1_Translation_Start_Site	p.I368M	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			14	4523	+		Prostate(94;0.0771)	368			Protein kinase.		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.1104C>G	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762087	0.69763	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.38	3.49	0.39957	ABC-1 (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76165	-0.3059	10	0.87932	D	0	-29.3222	9.4424	0.38677	0.0:0.7668:0.0:0.2332	.	42;368	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	M	368;316;368;293;89;213;319;42	ENSP00000355741:I368M;ENSP00000355740:I316M;ENSP00000355739:I368M;ENSP00000355738:I293M;ENSP00000403704:I89M;ENSP00000355737:I213M;ENSP00000404550:I42M	ENSP00000355737:I213M	I	+	3	3	ADCK3	225237899	0.964000	0.33143	1.000000	0.80357	0.976000	0.68499	1.241000	0.32743	0.632000	0.30432	0.462000	0.41574	ATC		0.622	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247		6	73	0	0	0	0.001168	0	6	73		
COG2	22796	broad.mit.edu	37	1	230795210	230795210	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:230795210G>A	ENST00000366669.4	+	2	188	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	COG2_ENST00000366668.3_Splice_Site_p.E25K|COG2_ENST00000535166.1_5'UTR|COG2_ENST00000534989.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	25					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.E25K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTTTTCAGGAAGATTTCGA	0.378																																						uc001htw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(73-75)GAA>AAA		component of oligomeric golgi complex 2 isoform							64.0	69.0	67.0					1																	230795210		2203	4300	6503	SO:0001630	splice_region_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230795210G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.73-1G>A	1.37:g.230795210G>A						COG2_uc001htx.2_Missense_Mutation_p.E25K|COG2_uc010pwc.1_5'UTR	p.E25K	NM_007357	NP_031383	Q14746	COG2_HUMAN			2	224	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	25					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.73G>A	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640672	0.67244	.	.	ENSG00000135775	ENST00000366669;ENST00000366668	T;T	0.24151	1.87;1.87	5.25	5.25	0.73442	Conserved oligomeric Golgi complex, subunit 2, N-terminal (1);	0.141123	0.64402	D	0.000008	T	0.19525	0.0469	N	0.25380	0.74	0.80722	D	1	B;B	0.32010	0.351;0.026	B;B	0.31390	0.129;0.021	T	0.04811	-1.0925	9	.	.	.	-20.7199	16.0702	0.80919	0.0:0.2019:0.7981:0.0	.	25;25	Q86U99;Q14746	.;COG2_HUMAN	K	25	ENSP00000355629:E25K;ENSP00000355628:E25K	.	E	+	1	0	COG2	228861833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.472000	0.66768	2.603000	0.88011	0.655000	0.94253	GAA		0.378	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1		NM_007357	Missense_Mutation	10	103	0	0	0	0.006214	0	10	103		
AHCTF1	25909	broad.mit.edu	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:247053281C>G	ENST00000391829.2	-	17	2254	c.2131G>C	c.(2131-2133)Gag>Cag	p.E711Q	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E720Q|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E746Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	711	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E711Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATAAACGCTCAAACTTCTGT	0.338																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(2)	7						c.(2131-2133)GAG>CAG		transcription factor ELYS							114.0	120.0	118.0					1																	247053281		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247053281C>G		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2131G>C	1.37:g.247053281C>G	ENSP00000375705:p.Glu711Gln					AHCTF1_uc001ibv.1_Missense_Mutation_p.E720Q|AHCTF1_uc009xgs.1_5'UTR	p.E711Q	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		16	2138	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	711			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2131G>C		.	.	.	.	.	.	.	.	.	.	C	11.23	1.576002	0.28092	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34072	1.38;1.38;1.39	5.61	3.62	0.41486	.	0.132552	0.52532	D	0.000063	T	0.43875	0.1267	L	0.50919	1.6	0.37507	D	0.916986	D;P	0.59767	0.986;0.916	P;P	0.55260	0.772;0.46	T	0.44787	-0.9305	10	0.27785	T	0.31	-9.9643	12.8931	0.58082	0.0:0.8042:0.1258:0.07	.	746;711	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Q	746;720;711	ENSP00000355464:E746Q;ENSP00000355465:E720Q;ENSP00000375705:E711Q	ENSP00000355465:E720Q	E	-	1	0	AHCTF1	245119904	1.000000	0.71417	0.890000	0.34922	0.002000	0.02628	3.403000	0.52615	1.379000	0.46325	0.579000	0.79373	GAG		0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446		19	221	0	0	0	0.012319	0	19	221		
AKR1C4	1109	broad.mit.edu	37	10	5248277	5248277	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:5248277A>T	ENST00000380448.1	+	7	740	c.487A>T	c.(487-489)Atc>Ttc	p.I163F	AKR1C4_ENST00000263126.1_Missense_Mutation_p.I163F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	163					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.I163F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GGCCAAGTCCATCGGGGTGTC	0.507																																						uc001ihw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(487-489)ATC>TTC		aldo-keto reductase family 1, member C4	NADH(DB00157)						166.0	145.0	152.0					10																	5248277		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5248277A>T	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.487A>T	10.37:g.5248277A>T	ENSP00000369814:p.Ile163Phe						p.I163F	NM_001818	NP_001809	P17516	AK1C4_HUMAN			5	520	+			163					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.487A>T	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775590	0.31411	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.34667	1.35;1.35	3.16	3.16	0.36331	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000006	T	0.71417	0.3337	H	0.98426	4.23	0.45822	D	0.998691	D	0.89917	1.0	D	0.85130	0.997	T	0.78661	-0.2117	10	0.87932	D	0	.	9.6032	0.39617	1.0:0.0:0.0:0.0	.	163	P17516	AK1C4_HUMAN	F	163	ENSP00000369814:I163F;ENSP00000263126:I163F	ENSP00000263126:I163F	I	+	1	0	AKR1C4	5238277	1.000000	0.71417	0.991000	0.47740	0.149000	0.21700	3.270000	0.51600	1.195000	0.43115	0.260000	0.18958	ATC		0.507	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2		NM_001818		11	126	0	0	0	0.008291	0	11	126		
UPF2	26019	broad.mit.edu	37	10	12071355	12071355	+	Silent	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:12071355T>C	ENST00000356352.2	-	2	1007	c.534A>G	c.(532-534)ctA>ctG	p.L178L	UPF2_ENST00000397053.2_Silent_p.L178L|UPF2_ENST00000357604.5_Silent_p.L178L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	178	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L178L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAATAGTTTTTAGTTTCTTGA	0.408																																						uc001ila.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(532-534)CTA>CTG		UPF2 regulator of nonsense transcripts homolog							93.0	98.0	96.0					10																	12071355		2203	4300	6503	SO:0001819	synonymous_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12071355T>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.534A>G	10.37:g.12071355T>C						UPF2_uc001ilb.2_Silent_p.L178L|UPF2_uc001ilc.2_Silent_p.L178L|UPF2_uc009xiz.1_Silent_p.L178L	p.L178L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			2	1008	-		Renal(717;0.228)	178			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.534A>G	CCDS7086.1																																																																																				0.408	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1				62	157	0	0	0	0.01441	0	62	157		
ZNF438	220929	broad.mit.edu	37	10	31138355	31138355	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:31138355C>A	ENST00000361310.3	-	6	1308	c.979G>T	c.(979-981)Gat>Tat	p.D327Y	ZNF438_ENST00000331737.6_Missense_Mutation_p.D317Y|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000413025.1_Missense_Mutation_p.D327Y|ZNF438_ENST00000452305.1_Missense_Mutation_p.D317Y|ZNF438_ENST00000538351.2_Missense_Mutation_p.D278Y|ZNF438_ENST00000442986.1_Missense_Mutation_p.D327Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.D317Y|ZNF438_ENST00000436087.2_Missense_Mutation_p.D327Y			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	327					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D327Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTATCTTATCACAGTCGGCC	0.468																																						uc010qdz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(979-981)GAT>TAT		zinc finger protein 438 isoform a							104.0	100.0	101.0					10																	31138355		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138355C>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.979G>T	10.37:g.31138355C>A	ENSP00000354663:p.Asp327Tyr					ZNF438_uc001ivn.2_Missense_Mutation_p.D278Y|ZNF438_uc010qdy.1_Missense_Mutation_p.D317Y|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.D327Y|ZNF438_uc001ivp.3_Missense_Mutation_p.D317Y|ZNF438_uc010qea.1_Missense_Mutation_p.D327Y|ZNF438_uc010qeb.1_Missense_Mutation_p.D327Y|ZNF438_uc010qec.1_5'UTR	p.D327Y	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1414	-		Prostate(175;0.0587)	327					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.979G>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892096	0.52014	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.62	3.73	0.42828	.	1.260280	0.04943	N	0.458926	T	0.22205	0.0535	L	0.56769	1.78	0.09310	N	1	P;P	0.48503	0.855;0.911	B;P	0.47941	0.359;0.562	T	0.13522	-1.0506	10	0.72032	D	0.01	0.4072	5.4888	0.16765	0.1468:0.6362:0.1417:0.0753	.	327;317	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	Y	317;327;327;327;327;317;317;278	ENSP00000333571:D317Y;ENSP00000354663:D327Y;ENSP00000406934:D327Y;ENSP00000412363:D327Y;ENSP00000387546:D327Y;ENSP00000413060:D317Y;ENSP00000410898:D317Y;ENSP00000445461:D278Y	ENSP00000333571:D317Y	D	-	1	0	ZNF438	31178361	0.005000	0.15991	0.001000	0.08648	0.071000	0.16799	0.598000	0.24074	0.696000	0.31696	0.650000	0.86243	GAT		0.468	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755		11	167	1	0	0.00829132	0.008291	0.00853629	11	167		
ALOX5	240	broad.mit.edu	37	10	45907638	45907638	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:45907638G>A	ENST00000374391.2	+	4	484		c.e4-1		ALOX5_ENST00000542434.1_Splice_Site	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase						arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.?(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCATGCTCAGATGGATGGAG	0.512																																						uc001jce.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.e4-1		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						115.0	112.0	113.0					10																	45907638		2203	4300	6503	SO:0001630	splice_region_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45907638G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.432-1G>A	10.37:g.45907638G>A						ALOX5_uc009xmt.2_Splice_Site_p.R144_splice|ALOX5_uc010qfg.1_Splice_Site_p.R144_splice	p.R144_splice	NM_000698	NP_000689	P09917	LOX5_HUMAN			4	531	+		Lung SC(717;0.0257)						B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Splice_Site	SNP	ENST00000374391.2	37	c.432_splice	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774658	0.90108	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.15	0.81611	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALOX5	45227644	1.000000	0.71417	0.120000	0.21714	0.674000	0.39518	9.537000	0.98070	2.393000	0.81446	0.655000	0.94253	.		0.512	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			Intron	23	66	0	0	0	0.012319	0	23	66		
CHAT	1103	broad.mit.edu	37	10	50857602	50857602	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:50857602C>T	ENST00000337653.2	+	10	1584	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	CHAT_ENST00000455728.2_Silent_p.L359L|CHAT_ENST00000351556.3_Silent_p.L359L|CHAT_ENST00000395559.2_Silent_p.L359L|CHAT_ENST00000339797.1_Silent_p.L359L|CHAT_ENST00000395562.2_Silent_p.L395L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	477					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.L477L(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TCAGCGAGCTCCCCGCCCCCC	0.617																																						uc001jhz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(3)	3						c.(1429-1431)CTC>CTT		choline acetyltransferase isoform 2	Choline(DB00122)						37.0	44.0	42.0					10																	50857602		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857602C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1431C>T	10.37:g.50857602C>T						CHAT_uc001jhv.1_Silent_p.L359L|CHAT_uc001jhx.1_Silent_p.L359L|CHAT_uc001jhy.1_Silent_p.L359L|CHAT_uc001jia.2_Silent_p.L359L|CHAT_uc010qgs.1_Silent_p.L359L	p.L477L	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	10	1584	+		all_neural(218;0.107)	477					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1431C>T	CCDS7232.1																																																																																				0.617	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		NM_020549		4	69	0	0	0	0.009096	0	4	69		
PCDH15	65217	broad.mit.edu	37	10	55600095	55600095	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:55600095C>G	ENST00000320301.6	-	29	4362	c.3968G>C	c.(3967-3969)aGa>aCa	p.R1323T	PCDH15_ENST00000437009.1_Missense_Mutation_p.R1252T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1330T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R934T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1323T|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1286T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1328T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1323T|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1330T|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1323T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1301T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1323					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1323T(2)|p.R1328T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGCTCATTTCTATCGATGGC	0.408										HNSCC(58;0.16)																												uc001jju.1		NaN																	4	Substitution - Missense(4)		urinary_tract(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3967-3969)AGA>ACA		protocadherin 15 isoform CD1-4 precursor							141.0	135.0	137.0					10																	55600095		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600095C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3968G>C	10.37:g.55600095C>G	ENSP00000322604:p.Arg1323Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.R1328T|PCDH15_uc010qhr.1_Missense_Mutation_p.R1323T|PCDH15_uc010qhs.1_Missense_Mutation_p.R1335T|PCDH15_uc010qht.1_Missense_Mutation_p.R1330T|PCDH15_uc010qhu.1_Missense_Mutation_p.R1323T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1323T|PCDH15_uc010qhw.1_Missense_Mutation_p.R1286T|PCDH15_uc010qhx.1_Missense_Mutation_p.R1252T|PCDH15_uc010qhy.1_Missense_Mutation_p.R1328T|PCDH15_uc010qhz.1_Missense_Mutation_p.R1323T|PCDH15_uc010qia.1_Missense_Mutation_p.R1301T|PCDH15_uc010qib.1_Missense_Mutation_p.R1301T	p.R1323T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			29	4363	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1323			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3968G>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.893956	0.72639	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59224	0.43;0.48;0.4;0.41;0.38;0.32;0.28;0.35;0.28;0.29;0.28	5.43	5.43	0.79202	.	.	.	.	.	T	0.68659	0.3025	L	0.34521	1.04	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.991;0.999;0.999;0.998;0.999;0.999;0.991;0.972;0.999;0.999;0.986;0.993;0.999	D;D;D;D;D;D;D;P;D;D;D;D;D	0.79108	0.992;0.954;0.971;0.954;0.968;0.954;0.992;0.871;0.954;0.954;0.926;0.926;0.971	T	0.70626	-0.4820	9	0.66056	D	0.02	.	19.1946	0.93682	0.0:1.0:0.0:0.0	.	1301;1323;1323;1328;1252;1286;1323;1323;1330;1330;1323;1328;1323	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1330;1328;1323;1323;934;1330;1286;1323;1301;1323;1323;1328;1252	ENSP00000363076:R1330T;ENSP00000410304:R1328T;ENSP00000378826:R1323T;ENSP00000386693:R934T;ENSP00000378832:R1330T;ENSP00000378820:R1286T;ENSP00000354950:R1323T;ENSP00000378821:R1301T;ENSP00000322604:R1323T;ENSP00000378818:R1323T;ENSP00000412628:R1252T	ENSP00000322604:R1323T	R	-	2	0	PCDH15	55270101	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.039000	0.57325	2.703000	0.92315	0.579000	0.79373	AGA		0.408	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		44	117	0	0	0	0.011902	0	44	117		
CTNNA3	29119	broad.mit.edu	37	10	68040318	68040318	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:68040318C>T	ENST00000433211.2	-	13	1968	c.1794G>A	c.(1792-1794)ttG>ttA	p.L598L	CTNNA3_ENST00000373744.4_Silent_p.L598L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.L598L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAACACATTCAATGAGCTTT	0.343																																						uc009xpn.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1792-1794)TTG>TTA		catenin, alpha 3							143.0	136.0	138.0					10																	68040318		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040318C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1794G>A	10.37:g.68040318C>T						CTNNA3_uc001jmw.2_Silent_p.L598L	p.L598L	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			13	1917	-			598						Silent	SNP	ENST00000433211.2	37	c.1794G>A	CCDS7269.1																																																																																				0.343	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2		NM_013266		11	140	0	0	0	0.008291	0	11	140		
MCU	90550	broad.mit.edu	37	10	74619017	74619017	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:74619017C>G	ENST00000373053.3	+	3	324	c.303C>G	c.(301-303)ctC>ctG	p.L101L	MCU_ENST00000357157.6_Silent_p.L101L|MCU_ENST00000536019.1_Silent_p.L52L	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	101					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.L101L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGTTCACACTCAAGCCTATCT	0.443																																						uc001jtc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(301-303)CTC>CTG		coiled-coil domain containing 109A							201.0	186.0	191.0					10																	74619017		2203	4300	6503	SO:0001819	synonymous_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74619017C>G	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.303C>G	10.37:g.74619017C>G						CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Silent_p.L101L|CCDC109A_uc001jtd.2_Silent_p.L52L	p.L101L	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			3	324	+	Prostate(51;0.0198)		101			Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	c.303C>G	CCDS7317.1																																																																																				0.443	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1		NM_138357		10	194	0	0	0	0.006214	0	10	194		
KAT6B	23522	broad.mit.edu	37	10	76744917	76744917	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:76744917A>G	ENST00000287239.4	+	12	2942	c.2453A>G	c.(2452-2454)tAt>tGt	p.Y818C	KAT6B_ENST00000372711.1_Missense_Mutation_p.Y635C|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y526C|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y526C|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y526C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	818	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y818C(1)									AAAACGTTGTATTATGATGTC	0.383																																						uc001jwn.1		NaN								T					CREBBP		AML		1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(2452-2454)TAT>TGT		MYST histone acetyltransferase (monocytic							132.0	123.0	126.0					10																	76744917		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76744917A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2453A>G	10.37:g.76744917A>G	ENSP00000287239:p.Tyr818Cys					MYST4_uc001jwm.1_Missense_Mutation_p.Y526C|MYST4_uc001jwo.1_Missense_Mutation_p.Y526C|MYST4_uc001jwp.1_Missense_Mutation_p.Y635C	p.Y818C	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			12	2946	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		818			Catalytic.|Interaction with BRPF1.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2453A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.738732	0.49045	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;D;T;D	0.81821	-1.49;-1.49;-1.54;-1.49;-1.51	6.07	6.07	0.98685	.	0.000000	0.45361	D	0.000364	D	0.92211	0.7530	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.93815	0.7113	10	0.87932	D	0	-10.1082	16.6268	0.84972	1.0:0.0:0.0:0.0	.	635;526;818	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	C	526;526;818;526;635	ENSP00000361810:Y526C;ENSP00000361809:Y526C;ENSP00000287239:Y818C;ENSP00000361799:Y526C;ENSP00000361796:Y635C	ENSP00000287239:Y818C	Y	+	2	0	KAT6B	76414923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.326000	0.78906	0.528000	0.53228	TAT		0.383	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330		16	101	0	0	0	0.004007	0	16	101		
ANXA11	311	broad.mit.edu	37	10	81929059	81929059	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:81929059C>T	ENST00000438331.1	-	6	709	c.227G>A	c.(226-228)gGg>gAg	p.G76E	ANXA11_ENST00000265447.4_Missense_Mutation_p.G76E|ANXA11_ENST00000537102.1_Missense_Mutation_p.G43E|ANXA11_ENST00000422982.3_Missense_Mutation_p.G76E|ANXA11_ENST00000360615.4_Missense_Mutation_p.G76E|ANXA11_ENST00000535999.1_Missense_Mutation_p.G76E|ANXA11_ENST00000372231.3_Missense_Mutation_p.G76E	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	76					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.G76E(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCCAGGGGCCCCAGGGTACAG	0.652																																						uc001kbq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(226-228)GGG>GAG		annexin A11							19.0	20.0	20.0					10																	81929059		2156	4222	6378	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81929059C>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.227G>A	10.37:g.81929059C>T	ENSP00000398610:p.Gly76Glu					ANXA11_uc010qlx.1_Missense_Mutation_p.G176E|ANXA11_uc001kbr.1_Missense_Mutation_p.G76E|ANXA11_uc001kbs.1_Missense_Mutation_p.G76E|ANXA11_uc001kbt.1_Missense_Mutation_p.G76E|ANXA11_uc010qly.1_Missense_Mutation_p.G43E|ANXA11_uc009xsq.1_Missense_Mutation_p.G76E|ANXA11_uc001kbu.1_Missense_Mutation_p.G76E	p.G76E	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		6	1052	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		76					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.227G>A	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	14.72	2.619060	0.46736	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02067	4.47;4.47;4.47;4.47;4.47;4.47;4.54	4.9	3.98	0.46160	.	0.729530	0.13203	N	0.405793	T	0.03011	0.0089	L	0.55481	1.735	0.31575	N	0.655836	B;B;B	0.34103	0.437;0.099;0.099	B;B;B	0.34590	0.186;0.06;0.06	T	0.16276	-1.0408	10	0.25106	T	0.35	.	6.9949	0.24777	0.0:0.7281:0.178:0.0939	.	176;76;76	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	E	76;76;76;76;76;76;76;43;76;76	ENSP00000361305:G76E;ENSP00000404412:G76E;ENSP00000398610:G76E;ENSP00000353827:G76E;ENSP00000265447:G76E;ENSP00000441748:G76E;ENSP00000441400:G43E	ENSP00000265447:G76E	G	-	2	0	ANXA11	81919039	0.875000	0.30112	0.992000	0.48379	0.867000	0.49689	1.964000	0.40462	1.166000	0.42689	0.462000	0.41574	GGG		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1		NM_145869		5	13	0	0	0	0.001168	0	5	13		
SFR1	119392	broad.mit.edu	37	10	105882813	105882813	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:105882813C>T	ENST00000369727.3	+	2	123	c.104C>T	c.(103-105)tCa>tTa	p.S35L	SFR1_ENST00000369729.3_Missense_Mutation_p.S22L|SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000336358.5_Missense_Mutation_p.S97L	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	35					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.S22L(1)									GCGAATCCATCATCTCCCTAT	0.398																																						uc001kxu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(103-105)TCA>TTA		hypothetical protein LOC119392 isoform a							96.0	95.0	95.0					10																	105882813		2203	4300	6503	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105882813C>T	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.104C>T	10.37:g.105882813C>T	ENSP00000358742:p.Ser35Leu					C10orf78_uc001kxs.2_Missense_Mutation_p.S22L|C10orf78_uc001kxt.2_5'UTR|C10orf78_uc001kxv.2_Missense_Mutation_p.S97L	p.S35L	NM_001002759	NP_001002759	Q86XK3	SFR1_HUMAN		Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014)	2	117	+		Colorectal(252;0.102)|Breast(234;0.122)	35					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.104C>T	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141134	0.37825	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.50001	0.83;0.82;0.76	4.42	2.37	0.29283	.	0.515517	0.19606	N	0.110275	T	0.25269	0.0614	N	0.22421	0.69	0.09310	N	1	B;P	0.35226	0.0;0.491	B;B	0.31495	0.001;0.131	T	0.06588	-1.0818	10	0.21540	T	0.41	-3.0969	4.7904	0.13245	0.2114:0.6782:0.0:0.1103	.	97;35	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	L	22;35;97	ENSP00000358744:S22L;ENSP00000358742:S35L;ENSP00000338089:S97L	ENSP00000338089:S97L	S	+	2	0	SFR1	105872803	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	0.821000	0.27338	1.172000	0.42781	0.455000	0.32223	TCA		0.398	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1		NM_145247		44	92	0	0	0	0.009718	0	44	92		
NRAP	4892	broad.mit.edu	37	10	115355468	115355468	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:115355468C>T	ENST00000359988.3	-	38	4694	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	NRAP_ENST00000369358.4_Missense_Mutation_p.D1492N|NRAP_ENST00000360478.3_Missense_Mutation_p.D1449N|NRAP_ENST00000369360.3_Missense_Mutation_p.D1457N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.D1484N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GATTCTGCATCTCCAGATCTA	0.512																																						uc001laj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(4450-4452)GAT>AAT		nebulin-related anchoring protein isoform S							184.0	151.0	162.0					10																	115355468		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115355468C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4450G>A	10.37:g.115355468C>T	ENSP00000353078:p.Asp1484Asn					NRAP_uc009xyb.2_Missense_Mutation_p.D273N|NRAP_uc001lak.2_Missense_Mutation_p.D1449N|NRAP_uc001lal.3_Missense_Mutation_p.D1484N	p.D1484N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	38	4614	-		Colorectal(252;0.0233)|Breast(234;0.188)	1484						Missense_Mutation	SNP	ENST00000359988.3	37	c.4450G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	4.228	0.041114	0.08196	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.16897	2.53;2.52;2.41;2.31	5.93	5.93	0.95920	.	0.157774	0.56097	D	0.000022	T	0.12817	0.0311	L	0.31207	0.915	0.09310	N	1	B;P;P;P	0.40970	0.006;0.615;0.734;0.615	B;B;B;B	0.36567	0.002;0.146;0.228;0.114	T	0.27434	-1.0074	10	0.20519	T	0.43	.	14.5988	0.68424	0.0:0.8547:0.1453:0.0	.	642;1484;1449;1484	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	N	1492;1457;1484;1449;642	ENSP00000358365:D1492N;ENSP00000358367:D1457N;ENSP00000353078:D1484N;ENSP00000353666:D1449N	ENSP00000353078:D1484N	D	-	1	0	NRAP	115345458	0.835000	0.29415	0.977000	0.42913	0.681000	0.39784	2.411000	0.44600	2.826000	0.97356	0.655000	0.94253	GAT		0.512	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2		NM_006175		10	144	0	0	0	0.008291	0	10	144		
FAM45A	404636	broad.mit.edu	37	10	120879939	120879939	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:120879939A>G	ENST00000361432.2	+	5	594	c.568A>G	c.(568-570)Ata>Gta	p.I190V	FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.I39V	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	190								p.I190V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCACCCCAAGATAGAAGCGGT	0.398																																						uc001ldw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(568-570)ATA>GTA		hypothetical protein LOC404636							93.0	89.0	90.0					10																	120879939		2203	4300	6503	SO:0001583	missense	404636							g.chr10:120879939A>G	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.568A>G	10.37:g.120879939A>G	ENSP00000354688:p.Ile190Val					FAM45A_uc010qsv.1_Missense_Mutation_p.I182V|FAM45A_uc010qsw.1_Missense_Mutation_p.I39V|FAM45A_uc010qsx.1_Intron|FAM45A_uc010qsy.1_Missense_Mutation_p.I117V|FAM45A_uc010qsz.1_Missense_Mutation_p.I79V	p.I190V	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	5	612	+		Lung NSC(174;0.094)|all_lung(145;0.123)	190					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	c.568A>G	CCDS7609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.78|11.78	1.739926|1.739926	0.30865|0.30865	.|.	.|.	ENSG00000119979|ENSG00000119979	ENST00000546291|ENST00000361432;ENST00000544016	.|.	.|.	.|.	5.96|5.96	3.67|3.67	0.42095|0.42095	.|.	.|0.133094	.|0.64402	.|N	.|0.000003	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.17872|0.17872	0.535|0.535	0.43782|0.43782	D|D	0.996315|0.996315	.|B;B;B;B	.|0.09022	.|0.001;0.001;0.001;0.002	.|B;B;B;B	.|0.12156	.|0.007;0.007;0.004;0.007	T|T	0.13415|0.13415	-1.0510|-1.0510	6|9	0.31617|0.26408	T|T	0.26|0.33	.|.	8.5408|8.5408	0.33390|0.33390	0.8517:0.0:0.1483:0.0|0.8517:0.0:0.1483:0.0	.|.	.|117;39;182;190	.|B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6	.|.;.;.;FA45A_HUMAN	G|V	189|190;39	.|.	ENSP00000442471:D189G|ENSP00000354688:I190V	D|I	+|+	2|1	0|0	FAM45A|FAM45A	120869929|120869929	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	3.094000|3.094000	0.50227|0.50227	1.089000|1.089000	0.41292|0.41292	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.398	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1		NM_207009		5	77	0	0	0	0.001168	0	5	77		
BAG3	9531	broad.mit.edu	37	10	121431904	121431904	+	Silent	SNP	C	C	T	rs138078305	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:121431904C>T	ENST00000369085.3	+	3	951	c.645C>T	c.(643-645)aaC>aaT	p.N215N		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	215					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.N215N(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ACGAGCAGAACGTTACCCGGC	0.652																																						uc001lem.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(643-645)AAC>AAT		BCL2-associated athanogene 3		C		0,4406		0,0,2203	83.0	81.0	82.0		645	-4.4	0.0	10	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	BAG3	NM_004281.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		215/576	121431904	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121431904C>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.645C>T	10.37:g.121431904C>T						BAG3_uc001lel.2_Silent_p.N215N	p.N215N	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	951	+		Lung NSC(174;0.109)|all_lung(145;0.142)	215					A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	c.645C>T	CCDS7615.1																																																																																				0.652	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1		NM_004281		22	70	0	0	0	0.010504	0	22	70		
MKI67	4288	broad.mit.edu	37	10	129905874	129905874	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:129905874G>A	ENST00000368654.3	-	13	4605	c.4230C>T	c.(4228-4230)ctC>ctT	p.L1410L	MKI67_ENST00000368653.3_Silent_p.L1050L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1410	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L1410L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTGTGTGAGCTTCTTCA	0.498																																						uc001lke.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4228-4230)CTC>CTT		antigen identified by monoclonal antibody Ki-67							307.0	286.0	293.0					10																	129905874		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905874G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4230C>T	10.37:g.129905874G>A						MKI67_uc001lkf.2_Silent_p.L1050L|MKI67_uc009yav.1_Silent_p.L985L|MKI67_uc009yaw.1_Silent_p.L560L	p.L1410L	NM_002417	NP_002408	P46013	KI67_HUMAN			13	4425	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1410			16 X 122 AA approximate repeats.|4.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.4230C>T	CCDS7659.1																																																																																				0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		43	317	0	0	0	0.013114	0	43	317		
OR51B6	390058	broad.mit.edu	37	11	5372785	5372785	+	Silent	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:5372785A>C	ENST00000380219.1	+	1	48	c.48A>C	c.(46-48)ccA>ccC	p.P16P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	16					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P16P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTTCCCAGGCATGGAGA	0.453																																						uc010qzb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(46-48)CCA>CCC		olfactory receptor, family 51, subfamily B,							95.0	79.0	84.0					11																	5372785		2201	4297	6498	SO:0001819	synonymous_variant	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5372785A>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.48A>C	11.37:g.5372785A>C						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P16P	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	48	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	16			Extracellular (Potential).			Silent	SNP	ENST00000380219.1	37	c.48A>C	CCDS31379.1																																																																																				0.453	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1		NM_001004750		6	39	0	0	0	0.004482	0	6	39		
MICAL2	9645	broad.mit.edu	37	11	12248645	12248645	+	Silent	SNP	C	C	G	rs552604458		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:12248645C>G	ENST00000256194.4	+	15	2250	c.1962C>G	c.(1960-1962)ctC>ctG	p.L654L	MICAL2_ENST00000537344.1_Silent_p.L654L|MICAL2_ENST00000379612.3_Silent_p.L654L|MICAL2_ENST00000342902.5_Silent_p.L654L|MICAL2_ENST00000527546.1_Silent_p.L654L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	654					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.L654L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATAACTATCTCAACCTCACAT	0.443																																						uc001mjz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(2)	2						c.(1960-1962)CTC>CTG		microtubule associated monoxygenase, calponin							119.0	109.0	112.0					11																	12248645		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12248645C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1962C>G	11.37:g.12248645C>G						MICAL2_uc010rch.1_Silent_p.L654L|MICAL2_uc001mka.2_Silent_p.L654L|MICAL2_uc010rci.1_Silent_p.L654L|MICAL2_uc001mkb.2_Silent_p.L654L|MICAL2_uc001mkc.2_Silent_p.L654L|MICAL2_uc001mkd.2_Silent_p.L483L|MICAL2_uc010rcj.1_Silent_p.L56L	p.L654L	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	15	2250	+			654					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.1962C>G	CCDS7809.1																																																																																				0.443	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		12	58	0	0	0	0.013537	0	12	58		
COPB1	1315	broad.mit.edu	37	11	14502617	14502617	+	Silent	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:14502617T>C	ENST00000249923.3	-	9	1284	c.984A>G	c.(982-984)gtA>gtG	p.V328V	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Silent_p.V328V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	328					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.V328V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTGTGCTCAATACTCTTAGGA	0.363																																						uc001mli.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(982-984)GTA>GTG		coatomer protein complex, subunit beta 1							105.0	110.0	108.0					11																	14502617		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14502617T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.984A>G	11.37:g.14502617T>C						COPB1_uc001mlg.2_Silent_p.V328V|COPB1_uc001mlh.2_Silent_p.V328V	p.V328V	NM_016451	NP_057535	P53618	COPB_HUMAN			9	1291	-			328			HEAT 5.		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.984A>G	CCDS7815.1																																																																																				0.363	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1		NM_016451		19	141	0	0	0	0.008871	0	19	141		
GTF2H1	2965	broad.mit.edu	37	11	18361114	18361114	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:18361114G>A	ENST00000265963.4	+	5	677	c.517G>A	c.(517-519)Gat>Aat	p.D173N	GTF2H1_ENST00000453096.2_Missense_Mutation_p.D173N|GTF2H1_ENST00000524753.4_De_novo_Start_OutOfFrame|GTF2H1_ENST00000534641.1_Missense_Mutation_p.D57N	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	173					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D173N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTTTAGGCTGATGTCCGGCC	0.423								Nucleotide excision repair (NER)																														uc001moi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(517-519)GAT>AAT	NER	general transcription factor IIH, polypeptide 1,							140.0	127.0	131.0					11																	18361114		2199	4293	6492	SO:0001583	missense	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18361114G>A		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.517G>A	11.37:g.18361114G>A	ENSP00000265963:p.Asp173Asn					GTF2H1_uc001moh.2_Missense_Mutation_p.D173N|GTF2H1_uc009yhm.2_Missense_Mutation_p.D57N	p.D173N	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN			6	1211	+			173					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.517G>A	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722378	0.96839	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963	T;T;T	0.30981	1.61;1.51;1.61	6.02	6.02	0.97574	.	0.099149	0.64402	D	0.000001	T	0.40222	0.1108	M	0.72118	2.19	0.80722	D	1	B	0.26120	0.142	B	0.26614	0.071	T	0.15178	-1.0446	10	0.46703	T	0.11	-6.7783	20.6011	0.99457	0.0:0.0:1.0:0.0	.	173	P32780	TF2H1_HUMAN	N	173;57;173	ENSP00000393638:D173N;ENSP00000435375:D57N;ENSP00000265963:D173N	ENSP00000265963:D173N	D	+	1	0	GTF2H1	18317690	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.878000	0.98634	0.650000	0.86243	GAT		0.423	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2		NM_005316		9	92	0	0	0	0.008291	0	9	92		
CCDC34	91057	broad.mit.edu	37	11	27384539	27384539	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:27384539G>C	ENST00000328697.6	-	1	876	c.203C>G	c.(202-204)tCt>tGt	p.S68C	CCDC34_ENST00000317945.6_Missense_Mutation_p.S68C	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	68								p.S68C(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GCCAAGGGGAGACAACAGCGA	0.637																																						uc001mrh.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(202-204)TCT>TGT		coiled-coil domain containing 34 isoform 1							142.0	128.0	133.0					11																	27384539		2202	4299	6501	SO:0001583	missense	91057							g.chr11:27384539G>C	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.203C>G	11.37:g.27384539G>C	ENSP00000330240:p.Ser68Cys					CCDC34_uc001mri.1_Missense_Mutation_p.S68C	p.S68C	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			1	257	-			68					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.203C>G	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387714	0.61956	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.36699	1.24;1.24	4.78	3.8	0.43715	.	0.000000	0.53938	D	0.000052	T	0.50803	0.1637	L	0.53249	1.67	0.39432	D	0.967105	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.53279	-0.8461	10	0.87932	D	0	-3.7326	9.7442	0.40437	0.0:0.0:0.7941:0.2059	.	68;68	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	C	68	ENSP00000330240:S68C;ENSP00000321563:S68C	ENSP00000321563:S68C	S	-	2	0	CCDC34	27341115	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	3.110000	0.50352	2.631000	0.89168	0.655000	0.94253	TCT		0.637	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2		NM_030771		7	95	0	0	0	0.001984	0	7	95		
METTL15	196074	broad.mit.edu	37	11	28232683	28232683	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:28232683C>G	ENST00000407364.3	+	4	697	c.345C>G	c.(343-345)ctC>ctG	p.L115L	METTL15_ENST00000406787.3_Silent_p.L115L|METTL15_ENST00000342303.5_Silent_p.L115L|METTL15_ENST00000303459.6_Silent_p.L115L			A6NJ78	MET15_HUMAN	methyltransferase like 15	115							methyltransferase activity (GO:0008168)	p.L115L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						ATATTGTTCTCTATGCCTTGG	0.378																																						uc001msh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(343-345)CTC>CTG		methyltransferase 5 domain containing 1 isoform							118.0	106.0	110.0					11																	28232683		2202	4296	6498	SO:0001819	synonymous_variant	196074						methyltransferase activity	g.chr11:28232683C>G	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.345C>G	11.37:g.28232683C>G						METT5D1_uc001msg.2_Silent_p.L115L|METT5D1_uc001mse.2_Silent_p.L115L	p.L115L	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN			4	800	+			115					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Silent	SNP	ENST00000407364.3	37	c.345C>G	CCDS44559.1																																																																																				0.378	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2		NM_152636		6	103	0	0	0	0.001168	0	6	103		
CCDC73	493860	broad.mit.edu	37	11	32622318	32622318	+	IGR	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:32622318G>C	ENST00000335185.5	-	0	3849				EIF3M_ENST00000524896.1_Missense_Mutation_p.D163H|EIF3M_ENST00000531120.1_Missense_Mutation_p.D295H	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73									p.D295H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AATTTCTTTTGACACAATGCA	0.343																																						uc001mtu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|skin(1)	3						c.(883-885)GAC>CAC		eukaryotic translation initiation factor 3,							139.0	140.0	140.0					11																	32622318		2202	4299	6501	SO:0001628	intergenic_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32622318G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279		11.37:g.32622318G>C						EIF3M_uc010ref.1_Missense_Mutation_p.D163H	p.D295H	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			9	926	+	Breast(20;0.109)		295			PCI.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.883G>C	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007704	0.75046	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000526267	T;T;T	0.31769	1.48;1.48;1.48	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.046249	0.85682	D	0.000000	T	0.47600	0.1454	L	0.42581	1.335	0.80722	D	1	B;D	0.57571	0.194;0.98	B;P	0.61592	0.094;0.891	T	0.21724	-1.0237	10	0.44086	T	0.13	-22.375	19.824	0.96608	0.0:0.0:1.0:0.0	.	163;295	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	H	295;163;136	ENSP00000436049:D295H;ENSP00000436787:D163H;ENSP00000432139:D136H	ENSP00000436787:D163H	D	+	1	0	EIF3M	32578894	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.502000	0.81614	2.699000	0.92147	0.591000	0.81541	GAC		0.343	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391		17	156	0	0	0	0.006122	0	17	156		
PRPF19	27339	broad.mit.edu	37	11	60671325	60671325	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:60671325C>T	ENST00000227524.4	-	2	233	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	RP11-881M11.2_ENST00000544421.1_RNA	NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.E10K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TCCGGCACTTCGTTAGAGACT	0.507																																						uc001nqf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(28-30)GAA>AAA		PRP19/PSO4 pre-mRNA processing factor 19							80.0	77.0	78.0					11																	60671325		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60671325C>T	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.28G>A	11.37:g.60671325C>T	ENSP00000227524:p.Glu10Lys						p.E10K	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			2	235	-			10			U-box.			Missense_Mutation	SNP	ENST00000227524.4	37	c.28G>A	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577650	0.96565	.	.	ENSG00000110107	ENST00000227524;ENST00000541371	D;D	0.86030	-2.06;-2.06	5.63	5.63	0.86233	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	D	0.92338	0.7569	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92626	0.6112	10	0.62326	D	0.03	-19.052	17.4654	0.87631	0.0:1.0:0.0:0.0	.	10	Q9UMS4	PRP19_HUMAN	K	10	ENSP00000227524:E10K;ENSP00000440266:E10K	ENSP00000227524:E10K	E	-	1	0	PRPF19	60427901	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	6.714000	0.74692	2.656000	0.90262	0.655000	0.94253	GAA		0.507	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1		NM_014502		18	99	0	0	0	0.008871	0	18	99		
SYT7	9066	broad.mit.edu	37	11	61291406	61291406	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:61291406C>T	ENST00000263846.4	-	7	1127	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	SYT7_ENST00000542670.1_Missense_Mutation_p.R475Q|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000540677.1_Missense_Mutation_p.R342Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R311Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R550Q|SYT7_ENST00000535826.1_Missense_Mutation_p.R386Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	267					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.R267Q(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGCTCCCCTCGGCTCCCCTG	0.607																																						uc001nrv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)	4						c.(799-801)CGA>CAA		synaptotagmin VII							171.0	169.0	170.0					11																	61291406		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61291406C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.800G>A	11.37:g.61291406C>T	ENSP00000263846:p.Arg267Gln					SYT7_uc009ynr.2_Missense_Mutation_p.R342Q	p.R267Q	NM_004200	NP_004191	O43581	SYT7_HUMAN			7	806	-			267			Cytoplasmic (Potential).		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.800G>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246472	0.95305	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.65	4.65	0.58169	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	M	0.79475	2.455	0.80722	D	1	P;B	0.38992	0.653;0.351	B;B	0.34385	0.181;0.049	T	0.72064	-0.4403	10	0.27082	T	0.32	.	17.884	0.88849	0.0:1.0:0.0:0.0	.	342;267	F5GZU9;O43581	.;SYT7_HUMAN	Q	267;342;550;311;475;386	ENSP00000263846:R267Q;ENSP00000444201:R342Q;ENSP00000439694:R550Q;ENSP00000444568:R311Q;ENSP00000444019:R475Q;ENSP00000437720:R386Q	ENSP00000263846:R267Q	R	-	2	0	SYT7	61047982	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.994000	0.70623	2.276000	0.75962	0.462000	0.41574	CGA		0.607	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1		NM_004200		13	205	0	0	0	0.00245	0	13	205		
CD248	57124	broad.mit.edu	37	11	66082774	66082774	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:66082774G>A	ENST00000311330.3	-	1	1741	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	575	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.L575L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						CCTGGGTTCTGAGGACAAGGG	0.607																																						uc001ohm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(3)	3						c.(1723-1725)CTC>CTT		tumor endothelial marker 1 precursor	Cefalotin(DB00456)						117.0	128.0	125.0					11																	66082774		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082774G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1725C>T	11.37:g.66082774G>A							p.L575L	NM_020404	NP_065137	Q9HCU0	CD248_HUMAN			1	1742	-			575			Pro-rich.|Extracellular (Potential).		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1725C>T	CCDS8134.1																																																																																				0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2		NM_020404		23	143	0	0	0	0.00333	0	23	143		
B3GNT1	11041	broad.mit.edu	37	11	66113603	66113603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:66113603C>T	ENST00000311181.4	-	2	1311	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	389					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.E389K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TGCTGATTTTCAGCCTCCTTT	0.502																																						uc001ohr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1165-1167)GAA>AAA		UDP-GlcNAc:betaGal							249.0	229.0	236.0					11																	66113603		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66113603C>T	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1165G>A	11.37:g.66113603C>T	ENSP00000309096:p.Glu389Lys					BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.E389K	NM_006876	NP_006867	O43505	B3GN1_HUMAN			2	1310	-			389			Lumenal (Potential).		Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.1165G>A	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344217	0.82022	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.22539	1.95	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.72118	2.19	0.80722	D	1	D	0.57899	0.981	P	0.58077	0.832	T	0.11421	-1.0588	10	0.19590	T	0.45	-10.6994	15.9866	0.80157	0.0:1.0:0.0:0.0	.	389	O43505	B3GN1_HUMAN	K	389;160	ENSP00000309096:E389K	ENSP00000309096:E389K	E	-	1	0	B3GNT1	65870179	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	7.335000	0.79234	2.371000	0.80710	0.655000	0.94253	GAA		0.502	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1		NM_006876		77	140	0	0	0	0.01441	0	77	140		
SHANK2	22941	broad.mit.edu	37	11	70319029	70319029	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:70319029C>T	ENST00000423696.2	-	16	4394	c.4358G>A	c.(4357-4359)cGa>cAa	p.R1453Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.R1237Q|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1833Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1236Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1453	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.R1237Q(1)|p.R1833Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGCCCGACTCGAGTTACCCC	0.488																																						uc001oqc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5494-5496)CGA>CAA		SH3 and multiple ankyrin repeat domains 2							214.0	216.0	216.0					11																	70319029		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319029C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4358G>A	11.37:g.70319029C>T	ENSP00000394536:p.Arg1453Gln					SHANK2_uc010rqn.1_Missense_Mutation_p.R1244Q|SHANK2_uc001opz.2_Missense_Mutation_p.R1237Q|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.R168Q	p.R1832Q	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5573	-			1453			SAM.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5495G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.577561	0.96565	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	6.03	6.03	0.97812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.67875	-0.5557	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1453;1832;1237	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	1237;1236;1111;1833;1453;1471;1456	ENSP00000399423:R1237Q;ENSP00000386491:R1236Q;ENSP00000402944:R1111Q;ENSP00000345193:R1833Q;ENSP00000394536:R1453Q;ENSP00000294018:R1456Q	ENSP00000294018:R1456Q	R	-	2	0	SHANK2	69996677	1.000000	0.71417	0.816000	0.32577	0.895000	0.52256	7.592000	0.82676	2.861000	0.98227	0.655000	0.94253	CGA		0.488	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		74	180	0	0	0	0.01441	0	74	180		
SYTL2	54843	broad.mit.edu	37	11	85447612	85447612	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:85447612G>A	ENST00000528231.1	-	5	792	c.515C>T	c.(514-516)tCa>tTa	p.S172L	SYTL2_ENST00000316356.4_Missense_Mutation_p.S173L|SYTL2_ENST00000389960.4_Missense_Mutation_p.S172L|SYTL2_ENST00000524452.1_Missense_Mutation_p.S172L|SYTL2_ENST00000527523.1_Missense_Mutation_p.S124L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	172					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S173L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGTTGTGATGAGTGACCTTC	0.313																																						uc010rth.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(514-516)TCA>TTA		synaptotagmin-like 2 isoform g							129.0	127.0	128.0					11																	85447612		2203	4298	6501	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85447612G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.515C>T	11.37:g.85447612G>A	ENSP00000431701:p.Ser172Leu					SYTL2_uc010rtg.1_Missense_Mutation_p.S173L|SYTL2_uc010rti.1_Missense_Mutation_p.S172L|SYTL2_uc010rtj.1_Missense_Mutation_p.S124L|SYTL2_uc001pbf.3_Missense_Mutation_p.S172L|SYTL2_uc010rtf.1_Missense_Mutation_p.S30L	p.S172L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	5	791	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	172					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.515C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	7.845	0.722694	0.15439	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.25749	1.88;1.88;1.87;1.78;1.88	5.93	0.931	0.19460	.	.	.	.	.	T	0.06872	0.0175	N	0.01109	-1.01	0.24861	N	0.992347	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.39901	-0.9591	8	.	.	.	.	5.1211	0.14860	0.6231:0.0:0.2489:0.128	.	124;172;172;173;30	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	L	172;173;172;124;172	ENSP00000374610:S172L;ENSP00000318803:S173L;ENSP00000431701:S172L;ENSP00000434010:S124L;ENSP00000435238:S172L	.	S	-	2	0	SYTL2	85125260	0.559000	0.26562	0.497000	0.27552	0.541000	0.35023	0.714000	0.25808	0.182000	0.20032	-0.126000	0.14955	TCA		0.313	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		4	70	0	0	0	0.000602	0	4	70		
C11orf73	51501	broad.mit.edu	37	11	86048472	86048472	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:86048472C>G	ENST00000278483.3	+	3	546	c.320C>G	c.(319-321)tCt>tGt	p.S107C	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_Missense_Mutation_p.S107C	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	107					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)	p.S107C(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				CGAACTCCATCTGTTGCTCAG	0.403																																						uc001pbu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(319-321)TCT>TGT		lethal, Chr 7, Rinchik 6							175.0	164.0	168.0					11																	86048472		2202	4299	6501	SO:0001583	missense	51501					cytoplasm		g.chr11:86048472C>G	BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.320C>G	11.37:g.86048472C>G	ENSP00000278483:p.Ser107Cys					C11orf73_uc001pbt.2_Missense_Mutation_p.S107C|C11orf73_uc010rto.1_RNA|C11orf73_uc010rtp.1_Missense_Mutation_p.S8C|C11orf73_uc001pbv.2_RNA	p.S107C	NM_016401	NP_057485	Q53FT3	CK073_HUMAN			3	558	+		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)	107					Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Missense_Mutation	SNP	ENST00000278483.3	37	c.320C>G	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890310	0.72524	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	T;T	0.47177	0.85;0.85	5.15	4.24	0.50183	.	0.158933	0.56097	D	0.000021	T	0.58566	0.2131	M	0.72118	2.19	0.45035	D	0.998051	P;D	0.63046	0.842;0.992	P;P	0.53450	0.563;0.726	T	0.61797	-0.6989	9	.	.	.	-11.2351	13.6	0.62013	0.0:0.9236:0.0:0.0764	.	107;107	Q53FT3;E9PPG8	CK073_HUMAN;.	C	107	ENSP00000432699:S107C;ENSP00000278483:S107C	.	S	+	2	0	C11orf73	85726120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.847000	0.75404	1.314000	0.45095	0.555000	0.69702	TCT		0.403	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1		NM_016401		51	272	0	0	0	0.01441	0	51	272		
FAT3	120114	broad.mit.edu	37	11	92533128	92533128	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:92533128G>C	ENST00000298047.6	+	9	6966	c.6949G>C	c.(6949-6951)Gaa>Caa	p.E2317Q	FAT3_ENST00000409404.2_Missense_Mutation_p.E2317Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E2167Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2317	Cadherin 21. {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)	p.E2317Q(2)		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)				TGCAGACTCAGAAAACAATAA	0.388										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|pancreas(1)	5						c.(6949-6951)GAA>CAA		FAT tumor suppressor homolog 3							76.0	68.0	70.0					11																	92533128		1892	4116	6008	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533128G>C	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.6949G>C	11.37:g.92533128G>C	ENSP00000298047:p.Glu2317Gln	TCGA Ovarian(4;0.039)					p.E2317Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6966	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2317			Cadherin 21.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6949G>C		.	.	.	.	.	.	.	.	.	.	G	13.22	2.171394	0.38315	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.94	5.94	0.96194	.	.	.	.	.	T	0.62829	0.2460	L	0.47078	1.49	0.80722	D	1	P	0.46987	0.888	P	0.48089	0.566	T	0.61729	-0.7003	9	0.51188	T	0.08	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	2317	Q8TDW7-3	.	Q	2317;2317;2167	ENSP00000298047:E2317Q;ENSP00000387040:E2317Q;ENSP00000432586:E2167Q	ENSP00000298047:E2317Q	E	+	1	0	FAT3	92172776	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.787000	0.99055	2.820000	0.97059	0.650000	0.86243	GAA		0.388	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		5	39	0	0	0	0.000602	0	5	39		
MMP27	64066	broad.mit.edu	37	11	102564639	102564639	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:102564639C>G	ENST00000260229.4	-	8	1282	c.1191G>C	c.(1189-1191)tgG>tgC	p.W397C		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	397					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W397C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	AAACTTACCTCCAGCACCAAA	0.353																																						uc001phd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1189-1191)TGG>TGC		matrix metalloproteinase 27 precursor							105.0	100.0	101.0					11																	102564639		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102564639C>G	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1191G>C	11.37:g.102564639C>G	ENSP00000260229:p.Trp397Cys						p.W397C	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	8	1214	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	397			Hemopexin-like 3.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1191G>C	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200171	0.58126	.	.	ENSG00000137675	ENST00000260229	T	0.09630	2.96	4.79	4.79	0.61399	Hemopexin/matrixin (2);	0.000000	0.52532	D	0.000077	T	0.47451	0.1446	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65253	-0.6213	10	0.87932	D	0	.	18.0165	0.89242	0.0:1.0:0.0:0.0	.	397	Q9H306	MMP27_HUMAN	C	397	ENSP00000260229:W397C	ENSP00000260229:W397C	W	-	3	0	MMP27	102069849	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.780000	0.38634	2.467000	0.83353	0.655000	0.94253	TGG		0.353	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1		NM_022122		4	169	0	0	0	0.000602	0	4	169		
DYNC2H1	79659	broad.mit.edu	37	11	103086469	103086469	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:103086469A>C	ENST00000375735.2	+	55	8858	c.8714A>C	c.(8713-8715)aAt>aCt	p.N2905T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2905T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2905	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.N338T(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTAAACTAAATGAAGCTAAA	0.343																																						uc001pho.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(8713-8715)AAT>ACT		dynein, cytoplasmic 2, heavy chain 1							79.0	72.0	74.0					11																	103086469		1848	4090	5938	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103086469A>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8714A>C	11.37:g.103086469A>C	ENSP00000364887:p.Asn2905Thr					DYNC2H1_uc001phn.1_Missense_Mutation_p.N2905T|DYNC2H1_uc009yxe.1_Intron	p.N2905T	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	55	8858	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2905			Potential.|Stalk (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.8714A>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998777	0.54147	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74106	-0.81;-0.81	5.33	5.33	0.75918	Dynein heavy chain, coiled coil stalk (1);	0.149652	0.41938	U	0.000794	T	0.63616	0.2526	L	0.33339	1.005	0.80722	D	1	B;B	0.31227	0.203;0.314	B;B	0.30646	0.093;0.118	T	0.60347	-0.7281	10	0.15499	T	0.54	.	15.327	0.74172	1.0:0.0:0.0:0.0	.	2905;2905	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	2905	ENSP00000364887:N2905T;ENSP00000381167:N2905T	ENSP00000364887:N2905T	N	+	2	0	DYNC2H1	102591679	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.119000	0.77145	2.016000	0.59253	0.533000	0.62120	AAT		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		3	19	0	0	0	0.004672	0	3	19		
CARD16	114769	broad.mit.edu	37	11	104915124	104915124	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:104915124G>A	ENST00000375706.2	-	2	286	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.S90L|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.S90L|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	90	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S90L(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CTTACCTGCTGAGAGTCCCAG	0.453																																						uc001pip.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(268-270)TCA>TTA		caspase-1 dominant-negative inhibitor pseudo-ICE							165.0	145.0	152.0					11																	104915124		2202	4299	6501	SO:0001583	missense	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104915124G>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.269C>T	11.37:g.104915124G>A	ENSP00000364858:p.Ser90Leu					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.S90L	p.S90L	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			2	296	-			90			CARD.		Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.269C>T	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368160	0.42003	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.47869	2.28;2.33;2.33;0.83	3.21	2.22	0.28083	DEATH-like (2);Caspase Recruitment (1);	0.629060	0.15801	U	0.243977	T	0.57154	0.2034	M	0.83118	2.625	0.09310	N	1	P;P	0.44776	0.785;0.843	P;P	0.49887	0.625;0.57	T	0.51220	-0.8733	10	0.72032	D	0.01	.	7.1666	0.25693	0.0:0.0:0.7185:0.2815	.	90;90	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	L	90;90;90;74	ENSP00000364858:S90L;ENSP00000364856:S90L;ENSP00000433700:S90L;ENSP00000432485:S74L	ENSP00000364856:S90L	S	-	2	0	CARD16	104420334	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.033000	0.13754	0.607000	0.29982	0.555000	0.69702	TCA		0.453	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1				50	138	0	0	0	0.01441	0	50	138		
KMT2A	4297	broad.mit.edu	37	11	118374132	118374132	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:118374132G>C	ENST00000389506.5	+	27	7516	c.7516G>C	c.(7516-7518)Gaa>Caa	p.E2506Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.E2468Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.E2509Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2506					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E2509K(1)|p.E2506K(1)|p.E2509Q(1)|p.E2506Q(1)									CATGCAAGTAGAAGGATCTGC	0.448																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		4	Substitution - Missense(4)		urinary_tract(4)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7516-7518)GAA>CAA		myeloid/lymphoid or mixed-lineage leukemia							71.0	69.0	70.0					11																	118374132		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374132G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7516G>C	11.37:g.118374132G>C	ENSP00000374157:p.Glu2506Gln					MLL_uc001ptb.2_Missense_Mutation_p.E2509Q	p.E2506Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7539	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2506					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7516G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519975	0.44866	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83075	-1.68;-1.68;-1.65	5.85	5.85	0.93711	.	0.169560	0.50627	D	0.000101	T	0.79834	0.4514	N	0.24115	0.695	0.41036	D	0.985193	D;D	0.53151	0.958;0.958	P;P	0.47827	0.558;0.558	T	0.78445	-0.2201	10	0.32370	T	0.25	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	2509;2506	E9PQG7;Q03164	.;MLL1_HUMAN	Q	2509;2506;2468;1416	ENSP00000436786:E2509Q;ENSP00000374157:E2506Q;ENSP00000346516:E2468Q	ENSP00000346516:E2468Q	E	+	1	0	MLL	117879342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.767000	0.95098	0.655000	0.94253	GAA		0.448	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		9	72	0	0	0	0.006214	0	9	72		
OR4D5	219875	broad.mit.edu	37	11	123810416	123810416	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:123810416C>A	ENST00000307033.2	+	1	167	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTTTTCTCTGCTGTGT	0.463																																						uc001pzk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(91-93)TTC>TTA		olfactory receptor, family 4, subfamily D,							112.0	106.0	108.0					11																	123810416		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810416C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.93C>A	11.37:g.123810416C>A	ENSP00000305970:p.Phe31Leu						p.F31L	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	93	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	31			Helical; Name=1; (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.93C>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395419	0.25205	.	.	ENSG00000171014	ENST00000307033	T	0.04454	3.62	5.28	3.05	0.35203	.	0.000000	0.50627	D	0.000110	T	0.05364	0.0142	L	0.51914	1.62	0.30859	N	0.733748	B	0.17038	0.02	B	0.18871	0.023	T	0.04454	-1.0950	10	0.44086	T	0.13	-18.5794	6.9861	0.24729	0.0:0.6286:0.144:0.2274	.	31	Q8NGN0	OR4D5_HUMAN	L	31	ENSP00000305970:F31L	ENSP00000305970:F31L	F	+	3	2	OR4D5	123315626	0.000000	0.05858	0.980000	0.43619	0.085000	0.17905	-0.496000	0.06436	1.221000	0.43506	0.655000	0.94253	TTC		0.463	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1		NM_001001965		19	154	1	0	4.96729e-08	0.008871	5.34485e-08	19	154		
OR10G8	219869	broad.mit.edu	37	11	123900608	123900608	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:123900608C>T	ENST00000431524.1	+	1	312	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F93F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTATCTCCTTCCACAGCTGCA	0.522																																						uc001pzp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(277-279)TTC>TTT		olfactory receptor, family 10, subfamily G,							189.0	168.0	176.0					11																	123900608		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900608C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.279C>T	11.37:g.123900608C>T							p.F93F	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	279	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	93			Extracellular (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.279C>T	CCDS31704.1																																																																																				0.522	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1		NM_001004464		9	134	0	0	0	0.008291	0	9	134		
KCNJ5	3762	broad.mit.edu	37	11	128781390	128781390	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:128781390G>C	ENST00000338350.4	+	3	574	c.222G>C	c.(220-222)ctG>ctC	p.L74L	KCNJ5_ENST00000529694.1_Silent_p.L74L|KCNJ5_ENST00000533599.1_Silent_p.L74L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	74					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.L74L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	ACCGGTACCTGAGTGACCTCT	0.577																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(220-222)CTG>CTC		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						142.0	116.0	125.0					11																	128781390		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781390G>C	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.222G>C	11.37:g.128781390G>C						KCNJ5_uc009zck.2_Silent_p.L74L|KCNJ5_uc001qew.2_Silent_p.L74L	p.L74L	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	536	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	74			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.222G>C	CCDS8479.1																																																																																				0.577	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1		NM_000890		4	134	0	0	0	0.001168	0	4	134		
FOXM1	2305	broad.mit.edu	37	12	2968590	2968590	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:2968590C>G	ENST00000359843.3	-	9	1574	c.1506G>C	c.(1504-1506)tgG>tgC	p.W502C	Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.W487C|FOXM1_ENST00000342628.2_Missense_Mutation_p.W540C	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	502	Glu/Pro/Ser/Thr-rich.				cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.W540C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACGAATCCTCCCAGGAGTGAG	0.547																																						uc001qlf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(1504-1506)TGG>TGC		forkhead box M1 isoform 2							92.0	97.0	95.0					12																	2968590		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968590C>G	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1506G>C	12.37:g.2968590C>G	ENSP00000352901:p.Trp502Cys					uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.W540C|FOXM1_uc001qlg.2_Missense_Mutation_p.W487C|FOXM1_uc009zea.2_Missense_Mutation_p.W487C|FOXM1_uc009zeb.2_Missense_Mutation_p.W486C	p.W502C	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		9	1771	-			502			Glu/Pro/Ser/Thr-rich.		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1506G>C	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819162	0.32145	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92752	-3.07;-3.1;-3.03	4.49	3.57	0.40892	.	0.233010	0.30210	N	0.010156	D	0.93648	0.7971	M	0.63428	1.95	0.43018	D	0.994567	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.69654	0.922;0.963;0.965;0.963;0.965	D	0.92388	0.5919	10	0.48119	T	0.1	.	7.7592	0.28942	0.0:0.743:0.1659:0.0911	.	486;502;487;502;540	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	C	540;487;502	ENSP00000342307:W540C;ENSP00000354492:W487C;ENSP00000352901:W502C	ENSP00000342307:W540C	W	-	3	0	FOXM1	2838851	0.999000	0.42202	1.000000	0.80357	0.511000	0.34104	1.434000	0.34958	1.206000	0.43276	0.462000	0.41574	TGG		0.547	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		NM_021953		5	201	0	0	0	0.001168	0	5	201		
CHD4	1108	broad.mit.edu	37	12	6680126	6680126	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:6680126C>T	ENST00000357008.2	-	39	5793	c.5630G>A	c.(5629-5631)cGa>cAa	p.R1877Q	NOP2_ENST00000399466.2_5'Flank|NOP2_ENST00000540228.1_5'Flank|NOP2_ENST00000545915.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.R1905Q|NOP2_ENST00000545200.1_5'Flank|NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000322166.5_5'Flank|NOP2_ENST00000541778.1_5'Flank|NOP2_ENST00000537442.1_5'Flank|NOP2_ENST00000382421.3_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.R1870Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1902Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1877	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1905Q(2)|p.R1877Q(2)		central_nervous_system(2)	2						TGGGGGAATTCGGGCAATGGT	0.537																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|endometrium(2)	central_nervous_system(2)	2						c.(5629-5631)CGA>CAA		chromodomain helicase DNA binding protein 4							248.0	245.0	246.0					12																	6680126		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6680126C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5630G>A	12.37:g.6680126C>T	ENSP00000349508:p.Arg1877Gln					CHD4_uc001qpn.2_Missense_Mutation_p.R1870Q|CHD4_uc001qpp.2_Missense_Mutation_p.R1902Q|NOP2_uc001qph.1_5'Flank|NOP2_uc001qpi.1_5'Flank|NOP2_uc001qpj.1_5'Flank|NOP2_uc001qpk.1_5'Flank|NOP2_uc001qpl.1_5'Flank|NOP2_uc001qpm.1_5'Flank	p.R1877Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			39	5794	-			1877			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.5630G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993912	0.93167	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92099	-2.97;-2.89;-2.97;-2.9	5.68	5.68	0.88126	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.95487	0.8534	M	0.64260	1.97	0.80722	D	1	D;D;P	0.76494	0.999;0.997;0.945	D;D;P	0.72982	0.975;0.979;0.567	D	0.95043	0.8180	10	0.54805	T	0.06	-2.3938	19.7959	0.96481	0.0:1.0:0.0:0.0	.	1905;1877;1870	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1902;1870;1905;1877;1851	ENSP00000440392:R1902Q;ENSP00000440542:R1870Q;ENSP00000312419:R1905Q;ENSP00000349508:R1877Q	ENSP00000312419:R1905Q	R	-	2	0	CHD4	6550387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.689000	0.91719	0.655000	0.94253	CGA		0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		54	333	0	0	0	0.01441	0	54	333		
CHD4	1108	broad.mit.edu	37	12	6686986	6686986	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:6686986C>G	ENST00000357008.2	-	37	5489	c.5326G>C	c.(5326-5328)Gag>Cag	p.E1776Q	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000309577.6_Missense_Mutation_p.E1804Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E1769Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1801Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1776	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E1804Q(1)|p.E1776Q(1)		central_nervous_system(2)	2						TTCTTGATCTCTAAGAAATTG	0.463																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)	2						c.(5326-5328)GAG>CAG		chromodomain helicase DNA binding protein 4							101.0	103.0	102.0					12																	6686986		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6686986C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5326G>C	12.37:g.6686986C>G	ENSP00000349508:p.Glu1776Gln					CHD4_uc001qpn.2_Missense_Mutation_p.E1769Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1801Q|uc001qpq.1_5'Flank	p.E1776Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			37	5490	-			1776			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.5326G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088630	0.94100	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93189	-3.18;-3.09;-3.18;-3.09	5.51	5.51	0.81932	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.82056	2.57	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.967	D;D;D	0.81914	0.986;0.995;0.917	D	0.97039	0.9756	10	0.87932	D	0	-9.9829	19.7859	0.96437	0.0:1.0:0.0:0.0	.	1804;1776;1769	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1801;1769;1804;1776;1750	ENSP00000440392:E1801Q;ENSP00000440542:E1769Q;ENSP00000312419:E1804Q;ENSP00000349508:E1776Q	ENSP00000312419:E1804Q	E	-	1	0	CHD4	6557247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	GAG		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		11	163	0	0	0	0.001855	0	11	163		
ABCC9	10060	broad.mit.edu	37	12	22015985	22015985	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:22015985C>T	ENST00000261201.4	-	18	2240	c.2241G>A	c.(2239-2241)agG>agA	p.R747R	ABCC9_ENST00000345162.2_Silent_p.R711R|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.R747R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	747	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R747R(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGTACCTGTTCCTACTGAAAA	0.323																																						uc001rfi.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|skin(2)	6						c.(2239-2241)AGG>AGA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						39.0	41.0	41.0					12																	22015985		2196	4300	6496	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22015985C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2241G>A	12.37:g.22015985C>T						ABCC9_uc001rfh.2_Silent_p.R747R|ABCC9_uc001rfj.1_Silent_p.R711R	p.R747R	NM_005691	NP_005682	O60706	ABCC9_HUMAN			18	2261	-			747			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.2241G>A	CCDS8694.1																																																																																				0.323	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		5	74	0	0	0	0.000602	0	5	74		
ADAMTS20	80070	broad.mit.edu	37	12	43826585	43826585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:43826585G>T	ENST00000389420.3	-	20	2749	c.2750C>A	c.(2749-2751)tCa>tAa	p.S917*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S917*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S71*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	917	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S917*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATTGGGATGAACATTCACT	0.368																																						uc010skx.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2749-2751)TCA>TAA		a disintegrin-like and metalloprotease with							171.0	155.0	160.0					12																	43826585		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826585G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2750C>A	12.37:g.43826585G>T	ENSP00000374071:p.Ser917*					ADAMTS20_uc001rno.1_Nonsense_Mutation_p.S71*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.S71*	p.S917*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	2750	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	917			TSP type-1 3.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.2750C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	38	6.823408	0.97865	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.43	4.43	0.53597	.	0.162606	0.27270	N	0.020125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9676	0.89103	0.0:0.0:1.0:0.0	.	.	.	.	X	917;83;71;917;917	.	ENSP00000374068:S917X	S	-	2	0	ADAMTS20	42112852	1.000000	0.71417	0.578000	0.28575	0.465000	0.32709	7.382000	0.79729	2.381000	0.81170	0.655000	0.94253	TCA		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		10	187	1	0	0.000673444	0.008291	0.000696507	10	187		
BAZ2A	11176	broad.mit.edu	37	12	56995427	56995427	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:56995427G>C	ENST00000551812.1	-	20	4173	c.3980C>G	c.(3979-3981)tCa>tGa	p.S1327*	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.S1295*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.S1325*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.S1297*	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1327	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1327*(2)|p.S1363*(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATCTGGGCTGAGATGTTAAA	0.602																																						uc001slq.1		NaN																	3	Substitution - Nonsense(3)		urinary_tract(3)		0						c.(3979-3981)TCA>TGA		bromodomain adjacent to zinc finger domain, 2A							89.0	97.0	94.0					12																	56995427		2055	4210	6265	SO:0001587	stop_gained	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56995427G>C	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3980C>G	12.37:g.56995427G>C	ENSP00000446880:p.Ser1327*					BAZ2A_uc001slp.1_Nonsense_Mutation_p.S1325*|BAZ2A_uc001slo.1_Nonsense_Mutation_p.S155*|BAZ2A_uc009zov.1_Nonsense_Mutation_p.S297*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.S1295*	p.S1327*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			20	4174	-			1327			Pro-rich.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	ENST00000551812.1	37	c.3980C>G	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	43	9.887227	0.99288	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	.	.	.	5.33	4.21	0.49690	.	0.345909	0.26935	N	0.021760	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.3222	9.3223	0.37971	0.1354:0.0:0.8646:0.0	.	.	.	.	X	1297;1295;1327;263;1325	.	ENSP00000179765:S1295X	S	-	2	0	BAZ2A	55281694	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	2.139000	0.42149	2.668000	0.90789	0.655000	0.94253	TCA		0.602	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449		51	118	0	0	0	0.01441	0	51	118		
FGD6	55785	broad.mit.edu	37	12	95604045	95604045	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:95604045C>T	ENST00000343958.4	-	2	1238	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	FGD6_ENST00000546711.1_Missense_Mutation_p.E339K|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.E339K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	339					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E339K(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCCGGTTCTTCAGTGCTTTCA	0.408																																						uc001tdp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(1015-1017)GAA>AAA		FYVE, RhoGEF and PH domain containing 6							116.0	118.0	118.0					12																	95604045		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95604045C>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1015G>A	12.37:g.95604045C>T	ENSP00000344446:p.Glu339Lys					FGD6_uc009zsx.2_Intron	p.E339K	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	1239	-			339					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1015G>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205124	0.09704	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.66460	-0.1;-0.21;-0.12	5.71	5.71	0.89125	.	0.000000	0.48286	D	0.000184	T	0.61553	0.2356	M	0.62723	1.935	0.20196	N	0.999926	B	0.17852	0.024	B	0.12156	0.007	T	0.50346	-0.8839	10	0.30078	T	0.28	-16.3125	10.8858	0.46965	0.0:0.8867:0.0:0.1133	.	339	Q6ZV73	FGD6_HUMAN	K	339	ENSP00000344446:E339K;ENSP00000450342:E339K;ENSP00000449005:E339K	ENSP00000344446:E339K	E	-	1	0	FGD6	94128176	0.058000	0.20735	0.131000	0.22000	0.136000	0.21042	2.099000	0.41767	2.684000	0.91462	0.561000	0.74099	GAA		0.408	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1		NM_018351		19	235	0	0	0	0.012319	0	19	235		
PARPBP	55010	broad.mit.edu	37	12	102572447	102572447	+	Silent	SNP	C	C	T	rs146074209	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:102572447C>T	ENST00000358383.5	+	8	1128	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	PARPBP_ENST00000327680.2_Silent_p.D280D|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000541394.1_Silent_p.D438D|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Silent_p.D280D|PARPBP_ENST00000543784.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	361					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D361D(1)|p.D280D(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTCTTTTGGACGAAGAAGCAG	0.368													c|||	3	0.000599042	0.0	0.0	5008	,	,		17994	0.001		0.002	False		,,,				2504	0.0					uc001tjf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1081-1083)GAC>GAT		hypothetical protein LOC55010		T		0,4406		0,0,2203	97.0	94.0	95.0		1083	4.5	1.0	12	dbSNP_134	95	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	C12orf48	NM_017915.3		0,9,6494	TT,TC,CC		0.1047,0.0,0.0692		361/580	102572447	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102572447C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1083C>T	12.37:g.102572447C>T						C12orf48_uc001tjg.2_Silent_p.D280D|C12orf48_uc010swa.1_Silent_p.D438D|C12orf48_uc001tjh.2_Silent_p.D280D|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.D76D|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	p.D361D	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			8	1195	+			361					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	c.1083C>T	CCDS9090.2																																																																																				0.368	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915		4	87	0	0	0	0.000602	0	4	87		
CKAP4	10970	broad.mit.edu	37	12	106632982	106632982	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:106632982G>A	ENST00000378026.4	-	2	1765	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	543						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.V543V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACTTGGCTGACTGAGGCTT	0.527																																						uc001tlk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1627-1629)GTC>GTT		cytoskeleton-associated protein 4							105.0	107.0	106.0					12																	106632982		2203	4300	6503	SO:0001819	synonymous_variant	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106632982G>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1629C>T	12.37:g.106632982G>A							p.V543V	NM_006825	NP_006816	Q07065	CKAP4_HUMAN			2	1713	-			543			Potential.		Q504S5|Q53ES6	Silent	SNP	ENST00000378026.4	37	c.1629C>T	CCDS9103.1																																																																																				0.527	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1				29	128	0	0	0	0.005443	0	29	128		
SSH1	54434	broad.mit.edu	37	12	109182345	109182345	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:109182345C>T	ENST00000326495.5	-	15	2662	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	SSH1_ENST00000360239.3_Missense_Mutation_p.E545K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	857					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E857K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCTCTCCTCGGGGATGCTG	0.667																																						uc001tnm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(2569-2571)GAG>AAG		slingshot 1 isoform 1							23.0	25.0	24.0					12																	109182345		2203	4299	6502	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182345C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2569G>A	12.37:g.109182345C>T	ENSP00000315713:p.Glu857Lys					SSH1_uc001tnl.2_Missense_Mutation_p.E545K	p.E857K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			15	2656	-			857					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2569G>A	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299987	0.60195	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.12774	2.8;2.65	5.54	5.54	0.83059	.	3.960080	0.00166	N	0.000004	T	0.41719	0.1171	L	0.60455	1.87	0.37900	D	0.931015	D;D	0.76494	0.984;0.999	B;D	0.68353	0.313;0.957	T	0.01545	-1.1328	10	0.39692	T	0.17	-34.203	17.6682	0.88209	0.0:1.0:0.0:0.0	.	857;545	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	K	545;857	ENSP00000353374:E545K;ENSP00000315713:E857K	ENSP00000315713:E857K	E	-	1	0	SSH1	107706474	0.992000	0.36948	0.996000	0.52242	0.522000	0.34438	3.217000	0.51184	2.620000	0.88729	0.655000	0.94253	GAG		0.667	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1		NM_018984		4	36	0	0	0	0.009096	0	4	36		
KSR2	283455	broad.mit.edu	37	12	117923470	117923470	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:117923470G>C	ENST00000339824.5	-	15	2973	c.2246C>G	c.(2245-2247)tCc>tGc	p.S749C	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.S720C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	749	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S781C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCACAACGGAATAGAGCGT	0.448																																						uc001two.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(2158-2160)TCC>TGC		kinase suppressor of ras 2							113.0	105.0	107.0					12																	117923470		1906	4130	6036	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117923470G>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2246C>G	12.37:g.117923470G>C	ENSP00000339952:p.Ser749Cys						p.S720C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			15	2214	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		749			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2159C>G		.	.	.	.	.	.	.	.	.	.	G	15.51	2.856362	0.51376	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.89939	-2.59;-2.59	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94003	0.8079	M	0.82132	2.575	0.58432	D	0.999996	D	0.89917	1.0	D	0.69479	0.964	D	0.94242	0.7486	10	0.72032	D	0.01	.	14.1478	0.65362	0.0712:0.0:0.9288:0.0	.	749	Q6VAB6	KSR2_HUMAN	C	720;749	ENSP00000389715:S720C;ENSP00000339952:S749C	ENSP00000339952:S749C	S	-	2	0	KSR2	116407853	1.000000	0.71417	0.691000	0.30163	0.026000	0.11368	7.960000	0.87893	2.716000	0.92895	0.655000	0.94253	TCC		0.448	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2		NM_173598		16	80	0	0	0	0.003163	0	16	80		
GPR133	283383	broad.mit.edu	37	12	131484985	131484985	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:131484985G>C	ENST00000261654.5	+	9	1583	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E374Q|GPR133_ENST00000376682.4_5'Flank	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	342					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E342Q(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCTCTGTCAGAGGTAAGAGA	0.502																																						uc001uit.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1024-1026)GAG>CAG		G protein-coupled receptor 133 precursor							154.0	137.0	143.0					12																	131484985		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131484985G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1024G>C	12.37:g.131484985G>C	ENSP00000261654:p.Glu342Gln					GPR133_uc010tbm.1_Missense_Mutation_p.E374Q	p.E342Q	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	9	1583	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		342			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1024G>C	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098611	0.20552	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900	T;T	0.50548	0.79;0.74	4.5	3.6	0.41247	.	0.157951	0.43416	D	0.000576	T	0.42063	0.1186	L	0.60455	1.87	0.80722	D	1	B;B	0.32245	0.361;0.209	B;B	0.28011	0.085;0.023	T	0.35919	-0.9769	10	0.49607	T	0.09	.	11.4932	0.50394	0.0:0.1823:0.8177:0.0	.	374;342	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Q	342;374;33;38	ENSP00000261654:E342Q;ENSP00000444425:E374Q	ENSP00000261654:E342Q	E	+	1	0	GPR133	130050938	1.000000	0.71417	0.990000	0.47175	0.120000	0.20174	4.751000	0.62169	0.859000	0.35456	-0.413000	0.06143	GAG		0.502	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		11	93	0	0	0	0.00245	0	11	93		
GPR133	283383	broad.mit.edu	37	12	131488789	131488789	+	Silent	SNP	G	G	A	rs73473278	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:131488789G>A	ENST00000261654.5	+	11	1762	c.1203G>A	c.(1201-1203)ccG>ccA	p.P401P	GPR133_ENST00000535015.1_Silent_p.P433P|GPR133_ENST00000376682.4_Silent_p.P87P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	401					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACCGCTTCCCGGCCCACGGGC	0.632													G|||	34	0.00678914	0.025	0.0014	5008	,	,		14406	0.0		0.0	False		,,,				2504	0.0					uc001uit.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1201-1203)CCG>CCA		G protein-coupled receptor 133 precursor		G		132,4274	95.3+/-134.0	3,126,2074	79.0	68.0	72.0		1203	-9.9	0.0	12	dbSNP_130	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR133	NM_198827.3		3,128,6372	AA,AG,GG		0.0233,2.9959,1.0303		401/875	131488789	134,12872	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131488789G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1203G>A	12.37:g.131488789G>A						GPR133_uc010tbm.1_Silent_p.P433P	p.P401P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	11	1762	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		401			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1203G>A	CCDS9272.1																																																																																				0.632	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		5	32	0	0	0	0.001984	0	5	32		
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:20048070G>C	ENST00000400230.2	-	6	420	c.376C>G	c.(376-378)Cga>Gga	p.R126G	TPTE2_ENST00000382975.4_Missense_Mutation_p.R126G|TPTE2_ENST00000390680.2_Missense_Mutation_p.R89G|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.R89G|TPTE2_ENST00000382977.4_Missense_Mutation_p.R126G|TPTE2_ENST00000382978.1_Missense_Mutation_p.R126G|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	126					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358																																						uc001umd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(376-378)CGA>GGA		TPTE and PTEN homologous inositol lipid							31.0	36.0	35.0					13																	20048070		2193	4289	6482	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048070G>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.376C>G	13.37:g.20048070G>C	ENSP00000383089:p.Arg126Gly					TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Missense_Mutation_p.R89G|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.R126G	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	587	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	126			Helical; (Potential).		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.376C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	10.58	1.389865	0.25118	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98666	-4.72;-5.06;-4.72;-4.72;-5.06;-4.72	2.33	-0.809	0.10864	Ion transport (1);	0.160682	0.41938	U	0.000796	D	0.98585	0.9527	M	0.87456	2.885	0.09310	N	1	D;D	0.71674	0.998;0.997	D;D	0.70227	0.923;0.968	D	0.94885	0.8042	9	.	.	.	-4.3682	3.2026	0.06655	0.1478:0.0:0.4017:0.4505	.	89;126	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	G	126;126;89;89;126;126;126	ENSP00000372438:R126G;ENSP00000383089:R126G;ENSP00000255310:R89G;ENSP00000375098:R89G;ENSP00000372437:R126G;ENSP00000372435:R126G	.	R	-	1	2	TPTE2	18946070	0.957000	0.32711	0.002000	0.10522	0.175000	0.22909	1.069000	0.30641	-0.245000	0.09625	-0.474000	0.04947	CGA		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254		9	76	0	0	0	0.004482	0	9	76		
SLC7A1	6541	broad.mit.edu	37	13	30106971	30106971	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:30106971G>C	ENST00000380752.5	-	4	905	c.519C>G	c.(517-519)ctC>ctG	p.L173L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	173					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.L173L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTCAAGATGAGAATTATGA	0.493																																						uc001uso.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(517-519)CTC>CTG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						118.0	120.0	119.0					13																	30106971		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30106971G>C	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.519C>G	13.37:g.30106971G>C							p.L173L	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	4	906	-		Lung SC(185;0.0257)|Breast(139;0.238)	173			Helical; (Potential).		Q5JR50	Silent	SNP	ENST00000380752.5	37	c.519C>G	CCDS9333.1																																																																																				0.493	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045		7	100	0	0	0	0.006214	0	7	100		
TEX26	122046	broad.mit.edu	37	13	31543165	31543165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:31543165C>T	ENST00000380473.3	+	6	803	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	264								p.Q264*(1)									AGAGTACCTTCAGAGTCTTTC	0.368																																						uc001uti.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(790-792)CAG>TAG		hypothetical protein LOC122046							112.0	112.0	112.0					13																	31543165		2203	4300	6503	SO:0001587	stop_gained	122046							g.chr13:31543165C>T	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.790C>T	13.37:g.31543165C>T	ENSP00000369840:p.Gln264*						p.Q264*	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)	6	809	+		Lung SC(185;0.0281)	264						Nonsense_Mutation	SNP	ENST00000380473.3	37	c.790C>T	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951411	0.53186	.	.	ENSG00000175664	ENST00000380473	.	.	.	5.81	-2.67	0.06059	.	0.921586	0.09283	N	0.823486	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.0183	10.3857	0.44138	0.2889:0.3317:0.3794:0.0	.	.	.	.	X	264	.	ENSP00000369840:Q264X	Q	+	1	0	C13orf26	30441165	0.014000	0.17966	0.000000	0.03702	0.066000	0.16364	-0.143000	0.10296	-0.364000	0.08088	0.655000	0.94253	CAG		0.368	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2		NM_152325		7	129	0	0	0	0.00308	0	7	129		
BRCA2	675	broad.mit.edu	37	13	32914961	32914961	+	Nonsense_Mutation	SNP	C	C	T	rs397507859		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:32914961C>T	ENST00000380152.3	+	11	6702	c.6469C>T	c.(6469-6471)Caa>Taa	p.Q2157*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q2157*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2157					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Q2157*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATATCTCTCTCAATTTCAACA	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6469-6471)CAA>TAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							39.0	41.0	40.0					13																	32914961		2202	4297	6499	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914961C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6469C>T	13.37:g.32914961C>T	ENSP00000369497:p.Gln2157*	TCGA Ovarian(8;0.087)					p.Q2157*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6696	+		Lung SC(185;0.0262)	2157					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.6469C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	43	10.514639	0.99419	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	4.81	1.98	0.26296	.	0.793644	0.11235	N	0.585216	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	9.111	0.36727	0.0:0.4976:0.4214:0.081	.	.	.	.	X	2157	.	ENSP00000369497:Q2157X	Q	+	1	0	BRCA2	31812961	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.715000	0.25822	0.186000	0.20125	0.591000	0.81541	CAA		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		21	52	0	0	0	0.008871	0	21	52		
NAA16	79612	broad.mit.edu	37	13	41910844	41910844	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:41910844C>T	ENST00000379406.3	+	9	1290	c.966C>T	c.(964-966)tgC>tgT	p.C322C	NAA16_ENST00000403412.3_Silent_p.C322C|NAA16_ENST00000379367.3_Silent_p.C322C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	322					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.C322C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GTAAAGGCTGCCCACCCTTGT	0.318																																						uc001uyf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(964-966)TGC>TGT		NMDA receptor regulated 1-like protein isoform							113.0	121.0	118.0					13																	41910844		2203	4299	6502	SO:0001819	synonymous_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41910844C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.966C>T	13.37:g.41910844C>T						NAA16_uc010tfg.1_Intron|NAA16_uc001uye.3_Silent_p.C322C|NAA16_uc001uyd.3_Intron	p.C322C	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			9	1290	+			322					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	ENST00000379406.3	37	c.966C>T	CCDS9379.1																																																																																				0.318	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2		NM_018527		7	100	0	0	0	0.004482	0	7	100		
NALCN	259232	broad.mit.edu	37	13	101944589	101944589	+	Missense_Mutation	SNP	C	C	T	rs200510423		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:101944589C>T	ENST00000251127.6	-	8	1009	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	NALCN_ENST00000376196.3_Missense_Mutation_p.A310T|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	310					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.A310T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAAGCCAGGCGAGGAAGAAA	0.458																																						uc001vox.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(928-930)GCC>ACC		voltage gated channel like 1							72.0	59.0	64.0					13																	101944589		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944589C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.928G>A	13.37:g.101944589C>T	ENSP00000251127:p.Ala310Thr					NALCN_uc001voy.2_Missense_Mutation_p.A25T|NALCN_uc001voz.2_Missense_Mutation_p.A310T|NALCN_uc001vpa.2_Missense_Mutation_p.A310T	p.A310T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			8	1117	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		310			Helical; Name=S6 of repeat I; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.928G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	35	5.447282	0.96205	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97505	-4.41;-4.41	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.70787	2.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.982;0.992	D	0.98093	1.0410	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	310;310;310	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	T	310	ENSP00000251127:A310T;ENSP00000365367:A310T	ENSP00000251127:A310T	A	-	1	0	NALCN	100742590	1.000000	0.71417	0.953000	0.39169	0.952000	0.60782	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GCC		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		10	38	0	0	0	0.010729	0	10	38		
TEX30	93081	broad.mit.edu	37	13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:103419691C>A	ENST00000376032.4	-	5	625	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376019.1_Nonsense_Mutation_p.E105*|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000487260.1_5'Flank	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	146								p.E105*(2)|p.E146*(2)		lung(1)|urinary_tract(1)	2						AAGAGGTCTTCATCTCTGAGT	0.408																																						uc001vpo.2		NaN																	4	Substitution - Nonsense(4)		urinary_tract(4)		0						c.(436-438)GAA>TAA		hypothetical protein LOC93081							106.0	102.0	103.0					13																	103419691		2203	4300	6503	SO:0001587	stop_gained	93081							g.chr13:103419691C>A	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.436G>T	13.37:g.103419691C>A	ENSP00000365200:p.Glu146*					C13orf27_uc001vpn.2_Nonsense_Mutation_p.E105*|C13orf27_uc001vpp.2_Nonsense_Mutation_p.E105*	p.E146*	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN			5	614	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		146					Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	ENST00000376032.4	37	c.436G>T	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.360392	0.97502	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	5.48	5.48	0.80851	.	0.046101	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-11.2866	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	X	105;105;146	.	ENSP00000365187:E105X	E	-	1	0	C13orf27	102217692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.733000	0.93635	0.591000	0.81541	GAA		0.408	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4		NM_138779		6	155	1	0	0.00307968	0.00308	0.00317789	6	155		
SALL2	6297	broad.mit.edu	37	14	21993519	21993519	+	Missense_Mutation	SNP	C	C	T	rs576329716		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:21993519C>T	ENST00000327430.3	-	2	637	c.343G>A	c.(343-345)Gag>Aag	p.E115K	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.E113K|SALL2_ENST00000317492.5_Missense_Mutation_p.E115K|SALL2_ENST00000538754.1_Missense_Mutation_p.E113K	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E115K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCTCCTCTCTGGGCCCCAG	0.642																																						uc001wbe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(343-345)GAG>AAG		sal-like 2							45.0	51.0	49.0					14																	21993519		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993519C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.343G>A	14.37:g.21993519C>T	ENSP00000333537:p.Glu115Lys					SALL2_uc010tly.1_Missense_Mutation_p.E113K|SALL2_uc010tlz.1_Missense_Mutation_p.E113K|SALL2_uc001wbf.3_Missense_Mutation_p.E113K|SALL2_uc010tma.1_Missense_Mutation_p.E115K|SALL2_uc001wbg.1_Missense_Mutation_p.E115K	p.E115K	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	625	-	all_cancers(95;0.000662)		115					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.343G>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818609	0.50633	.	.	ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235;ENST00000541965	T;T;T;T;T;T	0.39056	3.36;1.16;1.1;3.67;1.38;1.2	4.52	4.52	0.55395	.	0.381500	0.19041	N	0.124292	T	0.44787	0.1310	L	0.33485	1.01	0.30165	N	0.801861	P;P;B;D;D;B	0.57257	0.698;0.698;0.247;0.969;0.979;0.247	B;B;B;P;P;B	0.54270	0.185;0.185;0.091;0.554;0.747;0.091	T	0.43015	-0.9417	10	0.51188	T	0.08	-25.3194	12.6642	0.56833	0.0:1.0:0.0:0.0	.	113;113;113;115;113;115	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467	.;.;.;.;.;SALL2_HUMAN	K	115;115;113;113;115;113;53	ENSP00000333537:E115K;ENSP00000320536:E115K;ENSP00000445916:E113K;ENSP00000396773:E113K;ENSP00000438493:E113K;ENSP00000439654:E53K	ENSP00000320536:E115K	E	-	1	0	SALL2	21063359	0.426000	0.25506	0.983000	0.44433	0.971000	0.66376	2.259000	0.43259	2.375000	0.81037	0.558000	0.71614	GAG		0.642	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1		NM_005407		5	74	0	0	0	0.000602	0	5	74		
PRKD1	5587	broad.mit.edu	37	14	30105594	30105594	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:30105594C>A	ENST00000331968.5	-	7	1321	c.1092G>T	c.(1090-1092)atG>atT	p.M364I	PRKD1_ENST00000415220.2_Missense_Mutation_p.M372I|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	364					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.M364I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATCTTGGACCATTGCTTCTT	0.517																																						uc001wqh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1090-1092)ATG>ATT		protein kinase D1							353.0	257.0	290.0					14																	30105594		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105594C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1092G>T	14.37:g.30105594C>A	ENSP00000333568:p.Met364Ile						p.M364I	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1273	-	Hepatocellular(127;0.0604)		364					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1092G>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307499	0.40795	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.63913	-0.07;-0.07	6.17	5.28	0.74379	.	0.256434	0.39083	N	0.001465	T	0.37598	0.1009	N	0.03608	-0.345	0.31143	N	0.706434	B	0.02656	0.0	B	0.04013	0.001	T	0.37244	-0.9714	10	0.34782	T	0.22	-18.0303	11.0672	0.47982	0.0:0.6944:0.2411:0.0645	.	364	Q15139	KPCD1_HUMAN	I	364;372	ENSP00000333568:M364I;ENSP00000390535:M372I	ENSP00000333568:M364I	M	-	3	0	PRKD1	29175345	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.082000	0.30803	1.619000	0.50296	0.655000	0.94253	ATG		0.517	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2		NM_002742		17	151	1	0	8.00594e-06	0.007413	8.47358e-06	17	151		
ARHGAP5	394	broad.mit.edu	37	14	32560932	32560932	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:32560932C>G	ENST00000345122.3	+	2	1372	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L353V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L353V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L353V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	353					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.L353V(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTGCCAAATCTAGAAGAGAT	0.323																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(1057-1059)CTA>GTA		Rho GTPase activating protein 5 isoform b							86.0	92.0	90.0					14																	32560932		2186	4289	6475	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560932C>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1057C>G	14.37:g.32560932C>G	ENSP00000371897:p.Leu353Val					ARHGAP5_uc001wrm.2_Missense_Mutation_p.L353V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.L353V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.L353V	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1296	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		353					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.1057C>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891198	0.33442	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.64	1.82	0.25136	.	0.000000	0.64402	D	0.000001	T	0.26304	0.0642	M	0.68317	2.08	0.50467	D	0.999875	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.00245	-1.1882	10	0.38643	T	0.18	.	10.0823	0.42397	0.0:0.7298:0.0:0.2702	.	353;353	Q13017-2;Q13017	.;RHG05_HUMAN	V	353	ENSP00000452222:L353V;ENSP00000441692:L353V;ENSP00000371897:L353V;ENSP00000393307:L353V	ENSP00000371897:L353V	L	+	1	2	ARHGAP5	31630683	1.000000	0.71417	0.934000	0.37439	0.995000	0.86356	2.725000	0.47294	0.062000	0.16340	0.563000	0.77884	CTA		0.323	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		18	173	0	0	0	0.00499	0	18	173		
BAZ1A	11177	broad.mit.edu	37	14	35228028	35228028	+	Missense_Mutation	SNP	C	C	T	rs202171744		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:35228028C>T	ENST00000382422.2	-	24	4595	c.4268G>A	c.(4267-4269)cGa>cAa	p.R1423Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1391Q|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R1423Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1423					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.R1423fs*21(1)|p.R1423Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGAACTCCTTCGACCCAGTGT	0.408																																						uc001wsk.2		NaN																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.R1423fs*21(1)	urinary_tract(1)|breast(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(4267-4269)CGA>CAA		bromodomain adjacent to zinc finger domain, 1A							94.0	86.0	89.0					14																	35228028		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35228028C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4268G>A	14.37:g.35228028C>T	ENSP00000371859:p.Arg1423Gln					BAZ1A_uc001wsl.2_Missense_Mutation_p.R1391Q	p.R1423Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	25	4836	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1423					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4268G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	29.9	5.043279	0.93685	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.61627	0.09;0.09;0.09	5.46	4.58	0.56647	Bromodomain (2);	0.000000	0.64402	D	0.000001	T	0.43411	0.1246	L	0.36672	1.1	0.49798	D	0.999826	P;P	0.39624	0.681;0.553	B;B	0.26614	0.071;0.032	T	0.48937	-0.8990	10	0.66056	D	0.02	.	14.2281	0.65873	0.0:0.9281:0.0:0.0719	.	1391;1423	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	1391;1423;1423;1075	ENSP00000351555:R1391Q;ENSP00000371859:R1423Q;ENSP00000353458:R1423Q	ENSP00000351555:R1391Q	R	-	2	0	BAZ1A	34297779	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.757000	0.74924	1.302000	0.44855	0.655000	0.94253	CGA		0.408	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1				7	73	0	0	0	0.001984	0	7	73		
RALGAPA1	253959	broad.mit.edu	37	14	36230213	36230213	+	Splice_Site	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:36230213C>A	ENST00000389698.3	-	6	760		c.e6-1		RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000258840.6_Splice_Site|RALGAPA1_ENST00000554704.1_5'Flank|RALGAPA1_ENST00000307138.6_Splice_Site	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.?(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCGCCTAATCTAAAATAAAA	0.323																																						uc001wti.2		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(3)|breast(1)	4						c.e6-1		Ral GTPase activating protein, alpha subunit 1							25.0	25.0	25.0					14																	36230213		2199	4298	6497	SO:0001630	splice_region_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36230213C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.370-1G>T	14.37:g.36230213C>A						RALGAPA1_uc001wtj.2_Splice_Site_p.I124_splice|RALGAPA1_uc010tpv.1_Splice_Site_p.I124_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.I124_splice|RALGAPA1_uc001wtk.1_Splice_Site	p.I124_splice	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			6	761	-								A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Splice_Site	SNP	ENST00000389698.3	37	c.370_splice	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001238	0.74818	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3246	0.94256	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RALGAPA1	35299964	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.463000	0.80869	2.648000	0.89879	0.462000	0.41574	.		0.323	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	Intron	5	35	1	0	0.000602214	0.000602	0.000624263	5	35		
KLHDC2	23588	broad.mit.edu	37	14	50246473	50246473	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:50246473G>C	ENST00000298307.5	+	8	1583	c.722G>C	c.(721-723)aGa>aCa	p.R241T	KLHDC2_ENST00000557247.1_Missense_Mutation_p.R241T|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R241T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	241						nucleus (GO:0005634)		p.R241T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TAGGATGCTAGAATGAATGAT	0.318																																						uc001wwx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(721-723)AGA>ACA		kelch domain containing 2							122.0	123.0	123.0					14																	50246473		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50246473G>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.722G>C	14.37:g.50246473G>C	ENSP00000298307:p.Arg241Thr					SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R241T|KLHDC2_uc010anp.2_Missense_Mutation_p.R241T	p.R241T	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN			8	1122	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		241			Kelch 4.		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.722G>C	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034747	0.93575	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.62941	-0.01;-0.01;-0.01	5.77	5.77	0.91146	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.71036	2.16	0.80722	D	1	D;D;D	0.76494	0.984;0.998;0.999	P;D;D	0.69824	0.853;0.943;0.966	T	0.73145	-0.4075	10	0.26408	T	0.33	-23.2599	19.9981	0.97395	0.0:0.0:1.0:0.0	.	241;241;241	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	T	241	ENSP00000298307:R241T;ENSP00000451439:R241T;ENSP00000450658:R241T	ENSP00000298307:R241T	R	+	2	0	KLHDC2	49316223	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.352000	0.79404	2.729000	0.93468	0.655000	0.94253	AGA		0.318	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1				10	89	0	0	0	0.006214	0	10	89		
VCPKMT	79609	broad.mit.edu	37	14	50583166	50583166	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:50583166G>A	ENST00000395860.2	-	1	109	c.105C>T	c.(103-105)tcC>tcT	p.S35S	VCPKMT_ENST00000395859.2_Silent_p.S35S	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN	valosin containing protein lysine (K) methyltransferase	35					peptidyl-lysine trimethylation (GO:0018023)	cytoplasm (GO:0005737)	protein-lysine N-methyltransferase activity (GO:0016279)	p.S35S(1)									CCACGCCACCGGAGCTATACT	0.602																																						uc001wxo.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(103-105)TCC>TCT		hypothetical protein LOC79609 isoform a							59.0	64.0	62.0					14																	50583166		2203	4300	6503	SO:0001819	synonymous_variant	79609						methyltransferase activity	g.chr14:50583166G>A	AK023982	CCDS9696.2, CCDS41951.1	14q21.3	2013-09-30	2013-09-30	2013-09-30	ENSG00000100483	ENSG00000100483			20352	protein-coding gene	gene with protein product		615260	"""chromosome 14 open reading frame 138"", ""methyltransferase like 21D"""	C14orf138, METTL21D		22948820	Standard	NR_049738		Approved	VCP-KMT	uc001wxo.1	Q9H867	OTTHUMG00000029531	ENST00000395860.2:c.105C>T	14.37:g.50583166G>A						C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxp.1_Silent_p.S35S|C14orf138_uc001wxq.1_RNA	p.S35S	NM_024558	NP_078834	Q9H867	MT21D_HUMAN			1	132	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		35					B7ZLA3|B7ZLA4|Q2M2X3|Q86T12	Silent	SNP	ENST00000395860.2	37	c.105C>T	CCDS9696.2																																																																																				0.602	VCPKMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276877.1		NM_024558		5	18	0	0	0	0.000602	0	5	18		
WDHD1	11169	broad.mit.edu	37	14	55448271	55448271	+	Missense_Mutation	SNP	G	G	A	rs543826540		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:55448271G>A	ENST00000360586.3	-	16	2115	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	WDHD1_ENST00000421192.1_Missense_Mutation_p.P561S|WDHD1_ENST00000420358.2_Missense_Mutation_p.P561S|WDHD1_ENST00000359167.4_Missense_Mutation_p.P202S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	684					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.P684S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AGTTGCTGGGGATTTTCATGG	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		17274	0.001		0.0	False		,,,				2504	0.0					uc001xbm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2050-2052)CCC>TCC		WD repeat and HMG-box DNA binding protein 1							103.0	102.0	103.0					14																	55448271		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55448271G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2050C>T	14.37:g.55448271G>A	ENSP00000353793:p.Pro684Ser					WDHD1_uc010aom.1_Missense_Mutation_p.P201S|WDHD1_uc001xbn.1_Missense_Mutation_p.P561S	p.P684S	NM_007086	NP_009017	O75717	WDHD1_HUMAN			16	2128	-			684					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2050C>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465592	0.63513	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.61742	0.45;0.92;0.08	5.71	5.71	0.89125	.	0.168760	0.53938	D	0.000054	T	0.55862	0.1947	L	0.54323	1.7	0.80722	D	1	P;B	0.43519	0.809;0.04	B;B	0.40285	0.325;0.076	T	0.51803	-0.8659	10	0.18710	T	0.47	-1.0482	19.9281	0.97110	0.0:0.0:1.0:0.0	.	202;684	F8W7P7;O75717	.;WDHD1_HUMAN	S	684;202;561	ENSP00000353793:P684S;ENSP00000352085:P202S;ENSP00000391049:P561S	ENSP00000352085:P202S	P	-	1	0	WDHD1	54518021	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.623000	0.98386	2.708000	0.92522	0.585000	0.79938	CCC		0.368	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		NM_007086		11	114	0	0	0	0.013537	0	11	114		
WDHD1	11169	broad.mit.edu	37	14	55467688	55467688	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:55467688G>A	ENST00000360586.3	-	9	781	c.716C>T	c.(715-717)tCt>tTt	p.S239F	WDHD1_ENST00000421192.1_Missense_Mutation_p.S116F|WDHD1_ENST00000420358.2_Missense_Mutation_p.S116F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	239					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.S239F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCCACAGGGAGACCAGGTTAC	0.308																																						uc001xbm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(715-717)TCT>TTT		WD repeat and HMG-box DNA binding protein 1							129.0	130.0	130.0					14																	55467688		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55467688G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.716C>T	14.37:g.55467688G>A	ENSP00000353793:p.Ser239Phe					WDHD1_uc001xbn.1_Missense_Mutation_p.S116F	p.S239F	NM_007086	NP_009017	O75717	WDHD1_HUMAN			9	794	-			239			WD 6.		C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.716C>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828784	0.90955	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358	T;T;T	0.73789	4.53;-0.78;-0.78	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Translation initiation factor 2A, beta propellor-like domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93578	0.6910	10	0.87932	D	0	.	19.5251	0.95201	0.0:0.0:1.0:0.0	.	239	O75717	WDHD1_HUMAN	F	239;116;116	ENSP00000353793:S239F;ENSP00000391049:S116F;ENSP00000399349:S116F	ENSP00000353793:S239F	S	-	2	0	WDHD1	54537438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.176000	0.94839	2.615000	0.88500	0.591000	0.81541	TCT		0.308	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		NM_007086		21	166	0	0	0	0.008871	0	21	166		
SPTB	6710	broad.mit.edu	37	14	65234536	65234536	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:65234536C>G	ENST00000389721.5	-	29	6096	c.6064G>C	c.(6064-6066)Gag>Cag	p.E2022Q	SPTB_ENST00000389720.3_Missense_Mutation_p.E2022Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E2022Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E2022Q|SPTB_ENST00000389722.3_Missense_Mutation_p.E2022Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2022					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E2022Q(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCCACGCCTCAGCCACAGAG	0.607																																						uc001xht.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(6064-6066)GAG>CAG		spectrin beta isoform b							78.0	63.0	68.0					14																	65234536		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65234536C>G		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6064G>C	14.37:g.65234536C>G	ENSP00000374371:p.Glu2022Gln					SPTB_uc001xhr.2_Missense_Mutation_p.E2022Q|SPTB_uc001xhs.2_Missense_Mutation_p.E2022Q|SPTB_uc001xhu.2_Missense_Mutation_p.E2022Q|SPTB_uc010aqi.2_Missense_Mutation_p.E683Q	p.E2022Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	29	6118	-		all_lung(585;4.15e-09)	2022			Spectrin 17.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6064G>C	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679695	0.88542	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.81802	2.56	0.80722	D	1	P;B;P	0.52061	0.95;0.26;0.635	P;B;P	0.51945	0.685;0.408;0.595	T	0.74156	-0.3756	10	0.87932	D	0	.	17.736	0.88392	0.0:1.0:0.0:0.0	.	806;2022;2026	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	2026;2022;806;687;2022;2022;2022;2022	ENSP00000374372:E2022Q;ENSP00000451324:E687Q;ENSP00000451752:E2022Q;ENSP00000374371:E2022Q;ENSP00000443882:E2022Q;ENSP00000374370:E2022Q	ENSP00000334218:E806Q	E	-	1	0	SPTB	64304289	1.000000	0.71417	0.989000	0.46669	0.898000	0.52572	7.784000	0.85713	2.550000	0.86006	0.462000	0.41574	GAG		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1				8	29	0	0	0	0.004482	0	8	29		
RGS6	9628	broad.mit.edu	37	14	72985157	72985157	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:72985157C>G	ENST00000553530.1	+	15	1397	c.1190C>G	c.(1189-1191)cCa>cGa	p.P397R	RGS6_ENST00000406236.4_Missense_Mutation_p.P397R|RGS6_ENST00000355512.6_Missense_Mutation_p.P397R|RGS6_ENST00000404301.2_Missense_Mutation_p.P397R|RGS6_ENST00000407322.4_Missense_Mutation_p.P397R|RGS6_ENST00000434263.2_Missense_Mutation_p.P328R|RGS6_ENST00000555571.1_Missense_Mutation_p.P397R|RGS6_ENST00000343854.6_Missense_Mutation_p.P360R|RGS6_ENST00000554782.1_Missense_Mutation_p.P258R|RGS6_ENST00000402788.2_Missense_Mutation_p.P397R|RGS6_ENST00000553525.1_Missense_Mutation_p.P397R|RGS6_ENST00000556437.1_Missense_Mutation_p.P397R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	397	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.P397R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAGGGGCTCCAAGTGCAATC	0.468																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(1189-1191)CCA>CGA		regulator of G-protein signalling 6							74.0	75.0	75.0					14																	72985157		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72985157C>G	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1190C>G	14.37:g.72985157C>G	ENSP00000452331:p.Pro397Arg					RGS6_uc010ttn.1_Missense_Mutation_p.P397R|RGS6_uc001xmx.3_Missense_Mutation_p.P397R|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.P397R|RGS6_uc010ttp.1_Missense_Mutation_p.P328R|RGS6_uc001xmz.1_Missense_Mutation_p.P258R	p.P397R	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	15	1713	+			397			RGS.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.1190C>G	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811140	0.50527	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.41	4.45	0.53987	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.147724	0.64402	D	0.000007	T	0.62502	0.2433	M	0.90145	3.09	0.54753	D	0.999987	D;B;P;B	0.61697	0.99;0.344;0.943;0.153	D;B;P;B	0.67103	0.949;0.426;0.773;0.235	T	0.66889	-0.5809	10	0.44086	T	0.13	-12.8109	10.7748	0.46343	0.5178:0.4822:0.0:0.0	.	328;397;402;397	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	R	397;397;397;397;397;397;397;397;397;360;369;328;258;258	ENSP00000451030:P397R;ENSP00000450936:P397R;ENSP00000452331:P397R;ENSP00000451855:P397R;ENSP00000347699:P397R;ENSP00000385243:P397R;ENSP00000384218:P397R;ENSP00000384612:P397R;ENSP00000383953:P397R;ENSP00000341199:P360R;ENSP00000412144:P328R;ENSP00000451912:P258R	ENSP00000341199:P360R	P	+	2	0	RGS6	72054910	0.972000	0.33761	0.982000	0.44146	0.996000	0.88848	2.527000	0.45615	1.341000	0.45600	0.561000	0.74099	CCA		0.468	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2				9	59	0	0	0	0.008291	0	9	59		
ZNF410	57862	broad.mit.edu	37	14	74360609	74360609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:74360609C>A	ENST00000555044.1	+	3	337	c.143C>A	c.(142-144)tCa>tAa	p.S48*	RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000442160.3_Nonsense_Mutation_p.S48*|ZNF410_ENST00000540593.1_Nonsense_Mutation_p.S48*|ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000324593.6_Nonsense_Mutation_p.S48*|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	48					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S48*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ACTGAAGCCTCAGAATGCAGT	0.418																																						uc001xoz.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(142-144)TCA>TAA		zinc finger protein 410							128.0	121.0	123.0					14																	74360609		2203	4300	6503	SO:0001587	stop_gained	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74360609C>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.143C>A	14.37:g.74360609C>A	ENSP00000451763:p.Ser48*					ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Nonsense_Mutation_p.S48*|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Nonsense_Mutation_p.S48*|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Nonsense_Mutation_p.S48*|ZNF410_uc001xpc.1_5'UTR	p.S48*	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	3	325	+			48					B4DDV5|B4DR78|O00153|Q9BQ19	Nonsense_Mutation	SNP	ENST00000555044.1	37	c.143C>A	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	C	38	6.696360	0.97768	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000556160;ENST00000554797	.	.	.	5.67	5.67	0.87782	.	0.465636	0.16031	N	0.232841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7667	0.96346	0.0:1.0:0.0:0.0	.	.	.	.	X	48;48;55;48;48;48;48;48;48	.	ENSP00000323293:S48X	S	+	2	0	ZNF410	73430362	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.354000	0.79424	2.660000	0.90430	0.650000	0.86243	TCA		0.418	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1		NM_021188		62	103	1	0	1.1362e-29	0.01441	1.24624e-29	62	103		
RIN3	79890	broad.mit.edu	37	14	93081784	93081784	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:93081784G>C	ENST00000216487.7	+	4	559	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	134	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E134Q(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTTGTGTTTGAGGACATCTT	0.522																																						uc001yap.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)	3						c.(400-402)GAG>CAG		Ras and Rab interactor 3							221.0	186.0	198.0					14																	93081784		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93081784G>C	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.400G>C	14.37:g.93081784G>C	ENSP00000216487:p.Glu134Gln					RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Missense_Mutation_p.E59Q	p.E134Q	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			4	552	+		all_cancers(154;0.0701)	134			SH2.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.400G>C	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353691	0.61293	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.30981	1.51	5.7	5.7	0.88788	SH2 motif (3);	0.060626	0.64402	D	0.000005	T	0.53658	0.1810	M	0.61703	1.905	0.80722	D	1	P;D	0.71674	0.955;0.998	P;D	0.78314	0.867;0.991	T	0.49881	-0.8892	10	0.51188	T	0.08	-31.0929	16.7646	0.85521	0.0:0.0:1.0:0.0	.	59;134	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	Q	134	ENSP00000216487:E134Q	ENSP00000216487:E134Q	E	+	1	0	RIN3	92151537	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.292000	0.72725	2.698000	0.92095	0.655000	0.94253	GAG		0.522	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1				11	189	0	0	0	0.001855	0	11	189		
MAGEL2	54551	broad.mit.edu	37	15	23889947	23889947	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:23889947G>C	ENST00000532292.1	-	1	1228	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	261	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.L378L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTCAGAGAGACCCAGGG	0.647																																						uc001ywj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1132-1134)CTC>CTG		MAGE-like protein 2							25.0	27.0	26.0					15																	23889947		1869	4104	5973	SO:0001819	synonymous_variant	54551							g.chr15:23889947G>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1134C>G	15.37:g.23889947G>C							p.L378L	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1229	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1134C>G		.	.	.	.	.	.	.	.	.	.	G	0.341	-0.950524	0.02285	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	3.01	0.34805	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	.	9.5779	0.39470	0.0:0.2492:0.7508:0.0	.	.	.	.	C	410	.	.	S	-	2	0	MAGEL2	21441040	0.001000	0.12720	0.020000	0.16555	0.010000	0.07245	0.281000	0.18810	1.204000	0.43247	0.655000	0.94253	TCT		0.647	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2		NM_019066		4	20	0	0	0	0.009096	0	4	20		
ARHGAP11A	9824	broad.mit.edu	37	15	32917399	32917399	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:32917399C>A	ENST00000361627.3	+	5	1392	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q35K|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.Q224K|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q35K|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.Q224K	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	224	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q224K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GCTACGATTACAGGCTGCAGT	0.363																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(670-672)CAG>AAG		Rho GTPase activating protein 11A isoform 1							93.0	85.0	87.0					15																	32917399		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32917399C>A	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.670C>A	15.37:g.32917399C>A	ENSP00000355090:p.Gln224Lys					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.Q35K|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.Q224K|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.Q224K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.Q35K	p.Q224K	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	5	1392	+		all_lung(180;1.3e-11)	224			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.670C>A	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.150794	0.78001	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T;T	0.43294	0.95;1.92	4.95	4.95	0.65309	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.51477	D	0.000097	T	0.64605	0.2613	M	0.79693	2.465	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.59825	0.856;0.864	T	0.70737	-0.4790	10	0.72032	D	0.01	.	18.5578	0.91091	0.0:1.0:0.0:0.0	.	224;35	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	K	224;35	ENSP00000355090:Q224K;ENSP00000440073:Q35K	ENSP00000355090:Q224K	Q	+	1	0	ARHGAP11A	30704691	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.752000	0.85141	2.446000	0.82766	0.557000	0.71058	CAG		0.363	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1		NM_014783		53	68	1	0	5.82388e-19	0.01441	6.32666e-19	53	68		
FMN1	342184	broad.mit.edu	37	15	33359049	33359049	+	Intron	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:33359049G>C	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.S346C|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.S346C			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S346C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGCAGCAGAGAGAGCTGCTC	0.557																																						uc001zhf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1036-1038)TCT>TGT		formin 1							67.0	70.0	69.0					15																	33359049		2011	4176	6187	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359049G>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1774C>G	15.37:g.33359049G>C						FMN1_uc001zhg.2_Missense_Mutation_p.S346C	p.S346C	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1037	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1037C>G		.	.	.	.	.	.	.	.	.	.	G	14.33	2.502743	0.44558	.	.	ENSG00000248905	ENST00000334528	T	0.51071	0.72	5.68	4.71	0.59529	.	.	.	.	.	T	0.69450	0.3112	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.75235	-0.3389	7	0.72032	D	0.01	.	16.1298	0.81418	0.0:0.1335:0.8665:0.0	.	346;346	Q68DA7-3;Q68DA7-5	.;.	C	346	ENSP00000333950:S346C	ENSP00000333950:S346C	S	-	2	0	FMN1	31146341	0.999000	0.42202	0.998000	0.56505	0.969000	0.65631	3.216000	0.51176	2.694000	0.91930	0.643000	0.83706	TCT		0.557	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		10	98	0	0	0	0.010729	0	10	98		
NUTM1	256646	broad.mit.edu	37	15	34649515	34649515	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:34649515G>A	ENST00000333756.4	+	7	3377	c.3222G>A	c.(3220-3222)aaG>aaA	p.K1074K	NUTM1_ENST00000438749.3_Silent_p.K1092K|NUTM1_ENST00000537011.1_Silent_p.K1102K	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1074						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K1074K(1)									AGTCTGGGAAGCGAGCTCTAG	0.587																																						uc001zif.2		NaN								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - coding silent(1)		urinary_tract(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(3220-3222)AAG>AAA		nuclear protein in testis							45.0	45.0	45.0					15																	34649515		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34649515G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3222G>A	15.37:g.34649515G>A						C15orf55_uc010ucc.1_Silent_p.K1102K|C15orf55_uc010ucd.1_Silent_p.K1092K	p.K1074K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3377	+		all_lung(180;2.78e-08)	1074					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3222G>A	CCDS32190.1																																																																																				0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1		NM_175741		4	55	0	0	0	0.009096	0	4	55		
SPRED1	161742	broad.mit.edu	37	15	38591726	38591726	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:38591726G>A	ENST00000299084.4	+	2	1045	c.185G>A	c.(184-186)gGa>gAa	p.G62E	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	62	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.G62E(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTATCCGTGGAGAGCGACTC	0.388									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|skin(1)	5						c.(184-186)GGA>GAA		sprouty-related protein 1 with EVH-1 domain							106.0	92.0	97.0					15																	38591726		2200	4297	6497	SO:0001583	missense	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38591726G>A	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.185G>A	15.37:g.38591726G>A	ENSP00000299084:p.Gly62Glu						p.G62E	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	520	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	62			WH1.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.185G>A	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907507	0.92107	.	.	ENSG00000166068	ENST00000299084	D	0.87650	-2.28	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95168	0.8287	10	0.87932	D	0	-13.9908	19.8868	0.96915	0.0:0.0:1.0:0.0	.	62	Q7Z699	SPRE1_HUMAN	E	62	ENSP00000299084:G62E	ENSP00000299084:G62E	G	+	2	0	SPRED1	36379018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.974000	0.93433	2.709000	0.92574	0.655000	0.94253	GGA		0.388	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1				7	94	0	0	0	0.001984	0	7	94		
RASGRP1	10125	broad.mit.edu	37	15	38808463	38808463	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:38808463G>C	ENST00000310803.5	-	6	787	c.610C>G	c.(610-612)Ctg>Gtg	p.L204V	RASGRP1_ENST00000561180.1_Missense_Mutation_p.L255V|RASGRP1_ENST00000539159.1_Missense_Mutation_p.L156V|RASGRP1_ENST00000559830.1_Missense_Mutation_p.L204V|RASGRP1_ENST00000450598.2_Missense_Mutation_p.L204V|RASGRP1_ENST00000558164.1_Missense_Mutation_p.L204V	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	204					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.L204V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTGGTTCCAGATGGTCAAAG	0.468																																						uc001zke.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(610-612)CTG>GTG		RAS guanyl releasing protein 1 isoform a							164.0	153.0	157.0					15																	38808463		1887	4107	5994	SO:0001583	missense	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38808463G>C	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.610C>G	15.37:g.38808463G>C	ENSP00000310244:p.Leu204Val					RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.L66V|RASGRP1_uc010bbg.2_Missense_Mutation_p.L66V|RASGRP1_uc001zkd.3_Missense_Mutation_p.L204V	p.L204V	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	6	788	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	204					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.610C>G	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806990	0.70797	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.03	5.03	0.67393	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.48804	0.1520	M	0.64567	1.98	0.54753	D	0.999986	D;D;P;D	0.76494	0.999;0.975;0.87;0.969	D;D;D;P	0.80764	0.994;0.934;0.951;0.891	T	0.41945	-0.9480	10	0.52906	T	0.07	-11.4007	9.5724	0.39436	0.1547:0.0:0.8453:0.0	.	204;204;204;204	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	V	204;204;204;204;156;204;204	ENSP00000310244:L204V;ENSP00000388540:L204V;ENSP00000444762:L156V;ENSP00000413105:L204V	ENSP00000310244:L204V	L	-	1	2	RASGRP1	36595755	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.235000	0.72332	2.778000	0.95560	0.655000	0.94253	CTG		0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1		NM_005739		4	98	0	0	0	0.009096	0	4	98		
NUSAP1	51203	broad.mit.edu	37	15	41625174	41625174	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41625174G>C	ENST00000559596.1	+	1	106	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	NUSAP1_ENST00000560747.1_Missense_Mutation_p.E7Q|NUSAP1_ENST00000558123.1_3'UTR|OIP5_ENST00000220514.3_5'Flank|NUSAP1_ENST00000560177.1_Missense_Mutation_p.E7Q|NUSAP1_ENST00000414849.2_Missense_Mutation_p.E7Q|NUSAP1_ENST00000260359.6_Missense_Mutation_p.E7Q|NUSAP1_ENST00000450592.2_Missense_Mutation_p.E7Q|NUSAP1_ENST00000450318.1_Missense_Mutation_p.E7Q			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	7					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E7K(1)|p.E7Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCCCTCTCTAGAGGAGCTGGA	0.582																																						uc001zns.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)		0						c.(19-21)GAG>CAG		nucleolar and spindle associated protein 1							34.0	35.0	34.0					15																	41625174		1906	4128	6034	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41625174G>C	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.19G>C	15.37:g.41625174G>C	ENSP00000453403:p.Glu7Gln					OIP5_uc001znp.2_5'Flank|NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.E7Q|NUSAP1_uc010bce.2_Missense_Mutation_p.E7Q|NUSAP1_uc001znt.3_Missense_Mutation_p.E7Q|NUSAP1_uc001znv.3_Missense_Mutation_p.E7Q|NUSAP1_uc001znu.3_Missense_Mutation_p.E7Q|NUSAP1_uc010ucw.1_Missense_Mutation_p.E7Q	p.E7Q	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	1	249	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	7					B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.19G>C	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365889	0.82463	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	6.03	5.08	0.68730	.	0.257321	0.42821	D	0.000645	T	0.56031	0.1958	M	0.66939	2.045	0.26765	N	0.969913	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.975;0.982;0.988;0.999;0.999;0.988;0.984	T	0.47861	-0.9084	10	0.30854	T	0.27	.	14.0266	0.64590	0.0:0.0:0.8497:0.1503	.	7;7;7;7;7;7;7	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	Q	7	ENSP00000260359:E7Q;ENSP00000400746:E7Q;ENSP00000401351:E7Q;ENSP00000401014:E7Q	ENSP00000260359:E7Q	E	+	1	0	NUSAP1	39412466	0.977000	0.34250	0.966000	0.40874	0.887000	0.51463	1.993000	0.40747	2.861000	0.98227	0.655000	0.94253	GAG		0.582	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1		NM_016359		6	21	0	0	0	0.001984	0	6	21		
LTK	4058	broad.mit.edu	37	15	41805071	41805071	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41805071C>G	ENST00000263800.6	-	3	289	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	LTK_ENST00000453182.2_Missense_Mutation_p.E65Q|LTK_ENST00000355166.5_Missense_Mutation_p.E65Q|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	65					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E65Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAAGACCCCTCGGTGCCTGAG	0.652										TSP Lung(18;0.14)																												uc001zoa.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(6)|central_nervous_system(1)	7						c.(193-195)GAG>CAG		leukocyte receptor tyrosine kinase isoform 1							26.0	30.0	29.0					15																	41805071		2199	4292	6491	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41805071C>G	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.193G>C	15.37:g.41805071C>G	ENSP00000263800:p.Glu65Gln	TSP Lung(18;0.14)				LTK_uc001zob.3_Missense_Mutation_p.E65Q|LTK_uc010ucx.1_Missense_Mutation_p.E65Q|LTK_uc010bcg.2_Intron	p.E65Q	NM_002344	NP_002335	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	3	371	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	65			Extracellular (Potential).		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.193G>C	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.374699	0.24857	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.76709	-1.04;-0.81;-0.98	4.08	0.971	0.19698	.	1.241470	0.06348	U	0.709388	T	0.67344	0.2883	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15719	0.014;0.013;0.011	B;B;B	0.16289	0.007;0.015;0.003	T	0.52003	-0.8633	10	0.35671	T	0.21	.	14.3709	0.66838	0.0:0.5588:0.4412:0.0	.	65;65;65	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	Q	65	ENSP00000347293:E65Q;ENSP00000263800:E65Q;ENSP00000392196:E65Q	ENSP00000263800:E65Q	E	-	1	0	LTK	39592363	.	.	0.000000	0.03702	0.564000	0.35744	.	.	0.028000	0.15324	0.491000	0.48974	GAG		0.652	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2				3	44	0	0	0	0.009096	0	3	44		
MGA	23269	broad.mit.edu	37	15	41961828	41961828	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41961828C>G	ENST00000570161.1	+	1	736	c.736C>G	c.(736-738)Cag>Gag	p.Q246E	MGA_ENST00000566586.1_Missense_Mutation_p.Q246E|MGA_ENST00000389936.4_Missense_Mutation_p.Q246E|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.Q246E|MGA_ENST00000545763.1_Missense_Mutation_p.Q246E			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q246E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGATTACTCAGCTGAAAAT	0.418																																						uc001zog.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(736-738)CAG>GAG		MAX-interacting protein isoform 2							73.0	67.0	69.0					15																	41961828		1856	4114	5970	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961828C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.736C>G	15.37:g.41961828C>G	ENSP00000457035:p.Gln246Glu					MGA_uc010ucy.1_Missense_Mutation_p.Q246E|MGA_uc010ucz.1_Missense_Mutation_p.Q246E	p.Q246E	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	827	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	246			T-box.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.736C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416829	0.83449	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89875	-2.58;-2.58;-2.58	5.93	5.93	0.95920	.	0.048778	0.85682	D	0.000000	D	0.93661	0.7975	L	0.58510	1.815	0.54753	D	0.999989	P;D	0.63046	0.924;0.992	P;D	0.70016	0.864;0.967	D	0.93500	0.6843	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	246;246	F5H7K2;E7ENI0	.;.	E	246	ENSP00000219905:Q246E;ENSP00000374586:Q246E;ENSP00000442467:Q246E	ENSP00000219905:Q246E	Q	+	1	0	MGA	39749120	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.776000	0.85560	2.814000	0.96858	0.563000	0.77884	CAG		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		30	32	0	0	0	0.007291	0	30	32		
CDAN1	146059	broad.mit.edu	37	15	43025297	43025297	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:43025297G>A	ENST00000356231.3	-	9	1478	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	485					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I485I(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACCCACCTGATTCTGCTGC	0.552																																						uc001zql.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1453-1455)ATC>ATT		codanin 1							124.0	101.0	109.0					15																	43025297		2203	4299	6502	SO:0001819	synonymous_variant	146059					integral to membrane	protein binding	g.chr15:43025297G>A	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1455C>T	15.37:g.43025297G>A						CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	p.I485I	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	9	1572	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	485					Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	c.1455C>T	CCDS32209.1																																																																																				0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300		8	74	0	0	0	0.00308	0	8	74		
CDAN1	146059	broad.mit.edu	37	15	43025301	43025301	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:43025301C>T	ENST00000356231.3	-	9	1474	c.1451G>A	c.(1450-1452)aGa>aAa	p.R484K		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	484					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R484K(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCACCTGATTCTGCTGCCCAA	0.552																																						uc001zql.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1450-1452)AGA>AAA		codanin 1							124.0	102.0	109.0					15																	43025301		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43025301C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1451G>A	15.37:g.43025301C>T	ENSP00000348564:p.Arg484Lys					CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	p.R484K	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	9	1568	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	484					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1451G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079601	0.55753	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.86956	-2.19	6.03	6.03	0.97812	.	0.089123	0.85682	D	0.000000	T	0.77445	0.4131	N	0.13098	0.295	0.44547	D	0.997504	P	0.35155	0.487	B	0.35470	0.203	T	0.75551	-0.3278	10	0.26408	T	0.33	-16.5278	14.129	0.65240	0.0:0.9235:0.0:0.0765	.	484	Q8IWY9	CDAN1_HUMAN	K	484;482	ENSP00000348564:R484K	ENSP00000267892:R482K	R	-	2	0	CDAN1	40812593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.560000	0.45896	2.861000	0.98227	0.655000	0.94253	AGA		0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300		8	76	0	0	0	0.00308	0	8	76		
CASC4	113201	broad.mit.edu	37	15	44695105	44695105	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:44695105G>C	ENST00000299957.6	+	9	1392	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_Intron	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	365						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E365Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGATGAAAATGAATCCCCTGT	0.453																																						uc001zto.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1093-1095)GAA>CAA		cancer susceptibility candidate 4 isoform a							83.0	76.0	78.0					15																	44695105		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44695105G>C	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1093G>C	15.37:g.44695105G>C	ENSP00000299957:p.Glu365Gln					CASC4_uc001ztp.2_Missense_Mutation_p.E365Q|CASC4_uc001ztq.2_Intron	p.E365Q	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	9	1392	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	365			Lumenal (Potential).		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000299957.6	37	c.1093G>C	CCDS10108.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026788	0.93518	.	.	ENSG00000166734	ENST00000299957;ENST00000416522	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71090	-0.4693	9	0.26408	T	0.33	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	365;365	G5E934;Q6P4E1	.;CASC4_HUMAN	Q	365;344	.	ENSP00000299957:E365Q	E	+	1	0	CASC4	42482397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.885000	0.99019	0.655000	0.94253	GAA		0.453	CASC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253815.1		NM_138423		8	75	0	0	0	0.004482	0	8	75		
SCG3	29106	broad.mit.edu	37	15	51988109	51988109	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:51988109C>G	ENST00000220478.3	+	8	1309	c.906C>G	c.(904-906)atC>atG	p.I302M	SCG3_ENST00000542355.2_Missense_Mutation_p.I70M|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	302					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.I302M(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TGATTACTATCATGAAAACAC	0.333																																						uc002abh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(904-906)ATC>ATG		secretogranin III isoform 1 precursor							178.0	169.0	172.0					15																	51988109		2195	4293	6488	SO:0001583	missense	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51988109C>G	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.906C>G	15.37:g.51988109C>G	ENSP00000220478:p.Ile302Met					SCG3_uc010ufz.1_Missense_Mutation_p.I70M	p.I302M	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	8	1314	+			302					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	c.906C>G	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344358	0.61073	.	.	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.34859	1.34;1.34	5.42	3.09	0.35607	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.34521	1.04	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.42068	-0.9473	10	0.87932	D	0	-22.4068	9.6107	0.39661	0.2225:0.698:0.0:0.0795	.	302	Q8WXD2	SCG3_HUMAN	M	302;70	ENSP00000220478:I302M;ENSP00000445205:I70M	ENSP00000220478:I302M	I	+	3	3	SCG3	49775401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.053000	0.30442	1.128000	0.42052	0.655000	0.94253	ATC		0.333	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2		NM_013243		72	110	0	0	0	0.01441	0	72	110		
VWA9	81556	broad.mit.edu	37	15	65891286	65891286	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:65891286C>G	ENST00000395644.4	-	5	864	c.529G>C	c.(529-531)Gat>Cat	p.D177H	VWA9_ENST00000313182.2_Missense_Mutation_p.D177H|VWA9_ENST00000569491.1_Missense_Mutation_p.D128H|VWA9_ENST00000431261.2_Missense_Mutation_p.D98H|VWA9_ENST00000442903.3_Missense_Mutation_p.D141H|VWA9_ENST00000567744.1_Missense_Mutation_p.D213H|VWA9_ENST00000420799.2_Missense_Mutation_p.D120H			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	177	VWFA.			D -> Y (in Ref. 2; BAB55140). {ECO:0000305}.				p.D177H(1)									TTGTTTAAATCTATGAGACGT	0.418																																						uc002apd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(529-531)GAT>CAT		hypothetical protein LOC81556 isoform 2							92.0	85.0	87.0					15																	65891286		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65891286C>G	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.529G>C	15.37:g.65891286C>G	ENSP00000379006:p.Asp177His					C15orf44_uc010uix.1_Missense_Mutation_p.D213H|C15orf44_uc010uiz.1_Missense_Mutation_p.D141H|C15orf44_uc010uja.1_Missense_Mutation_p.D128H|C15orf44_uc010ujb.1_Missense_Mutation_p.D98H|C15orf44_uc002ape.3_Missense_Mutation_p.D177H|C15orf44_uc010uiy.1_Missense_Mutation_p.D98H	p.D177H	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			5	865	-			177	D -> Y (in Ref. 2; BAB55140).		VWFA.		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.529G>C		.	.	.	.	.	.	.	.	.	.	C	15.63	2.891016	0.52014	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.72	5.72	0.89469	von Willebrand factor, type A (1);	0.317725	0.39274	N	0.001401	T	0.68210	0.2976	M	0.66297	2.02	0.50813	D	0.999892	B;B;B;B	0.17038	0.002;0.0;0.02;0.008	B;B;B;B	0.17433	0.003;0.003;0.018;0.011	T	0.66035	-0.6023	9	0.87932	D	0	-26.2628	18.061	0.89377	0.0:1.0:0.0:0.0	.	128;141;213;177	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	H	177;177;98;120;141	.	ENSP00000326379:D177H	D	-	1	0	C15orf44	63678339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.994000	0.49433	2.704000	0.92352	0.655000	0.94253	GAT		0.418	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3		NM_030800		11	123	0	0	0	0.013537	0	11	123		
DENND4A	10260	broad.mit.edu	37	15	65983838	65983838	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:65983838C>T	ENST00000431932.2	-	22	3170	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	DENND4A_ENST00000443035.3_Missense_Mutation_p.E1031K|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	988					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E990K(1)|p.E1031K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AAGAGCAGCTCAGGTGTGCTT	0.289																																						uc002aph.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2962-2964)GAG>AAG		DENN/MADD domain containing 4A isoform 2							59.0	45.0	49.0					15																	65983838		1823	4071	5894	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983838C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2962G>A	15.37:g.65983838C>T	ENSP00000396830:p.Glu988Lys					DENND4A_uc002api.2_Missense_Mutation_p.E1031K|DENND4A_uc002apj.3_Missense_Mutation_p.E988K	p.E988K	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			22	3340	-			988					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.2962G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359340	0.24598	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04862	3.54;3.55	5.5	1.56	0.23342	.	5.133380	0.00357	N	0.000024	T	0.06690	0.0171	L	0.36672	1.1	0.30299	N	0.78969	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48779	-0.9005	10	0.06494	T	0.89	.	10.0879	0.42430	0.0:0.732:0.0:0.268	.	1031;988	E7EPL3;Q7Z401	.;MYCPP_HUMAN	K	1031;988	ENSP00000391167:E1031K;ENSP00000396830:E988K	ENSP00000396830:E988K	E	-	1	0	DENND4A	63770892	1.000000	0.71417	0.862000	0.33874	0.954000	0.61252	2.033000	0.41136	0.110000	0.17919	0.563000	0.77884	GAG		0.289	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		16	8	0	0	0	0.003163	0	16	8		
CLK3	1198	broad.mit.edu	37	15	74912488	74912488	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:74912488G>A	ENST00000395066.3	+	3	1196	c.735G>A	c.(733-735)gaG>gaA	p.E245E	CLK3_ENST00000348245.3_Silent_p.E97E|CLK3_ENST00000345005.4_Silent_p.E97E|CLK3_ENST00000352989.5_Silent_p.E97E	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	245	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E245E(1)|p.E97E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GATCGCGGGAGAGGGGGCCAT	0.617																																					Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	stomach(2)	2						c.(733-735)GAG>GAA		CDC-like kinase 3 isoform a							159.0	163.0	161.0					15																	74912488		2197	4296	6493	SO:0001819	synonymous_variant	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74912488G>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.735G>A	15.37:g.74912488G>A						CLK3_uc002ayg.3_Silent_p.E97E|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.E245E|CLK3_uc002ayj.3_Silent_p.E97E|CLK3_uc002ayk.3_5'UTR	p.E245E	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			3	1196	+			245			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Silent	SNP	ENST00000395066.3	37	c.735G>A	CCDS45304.1																																																																																				0.617	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3				51	75	0	0	0	0.01441	0	51	75		
POLG	5428	broad.mit.edu	37	15	89873444	89873444	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:89873444C>T	ENST00000268124.5	-	3	1056	c.723G>A	c.(721-723)ccG>ccA	p.P241P	POLG_ENST00000442287.2_Silent_p.P241P|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	241					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.P241P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGAGGTCAGCCGGCGACAGCT	0.617								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(721-723)CCG>CCA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							42.0	42.0	42.0					15																	89873444		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89873444C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.723G>A	15.37:g.89873444C>T						POLG_uc002bnr.3_Silent_p.P241P	p.P241P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		3	1005	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		241					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.723G>A	CCDS10350.1																																																																																				0.617	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2		NM_002693		10	47	0	0	0	0.006214	0	10	47		
TTC23	64927	broad.mit.edu	37	15	99759146	99759146	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:99759146C>G	ENST00000394132.2	-	7	1229	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	TTC23_ENST00000394136.1_Missense_Mutation_p.E138Q|TTC23_ENST00000262074.4_Missense_Mutation_p.E138Q|TTC23_ENST00000394129.2_Missense_Mutation_p.E138Q|TTC23_ENST00000394130.1_Missense_Mutation_p.E138Q|TTC23_ENST00000394135.3_Missense_Mutation_p.E138Q|TTC23_ENST00000558663.1_Missense_Mutation_p.E138Q|TTC23_ENST00000558613.1_Missense_Mutation_p.E138Q			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	138								p.E138Q(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGGAAAAGCTCAATGGAAAAC	0.393																																						uc002bur.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(412-414)GAG>CAG		tetratricopeptide repeat domain 23							179.0	172.0	174.0					15																	99759146		2197	4297	6494	SO:0001583	missense	64927						binding	g.chr15:99759146C>G		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.412G>C	15.37:g.99759146C>G	ENSP00000377690:p.Glu138Gln					TTC23_uc002bus.2_Missense_Mutation_p.E138Q|TTC23_uc002but.2_Missense_Mutation_p.E138Q|TTC23_uc002buu.2_Missense_Mutation_p.E138Q|TTC23_uc002buv.2_Missense_Mutation_p.E138Q|TTC23_uc002bux.2_Missense_Mutation_p.E138Q|TTC23_uc002buw.2_Missense_Mutation_p.E138Q|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.E138Q|TTC23_uc010bor.2_Missense_Mutation_p.E138Q|TTC23_uc002buz.2_Missense_Mutation_p.E138Q	p.E138Q	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		6	943	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138			TPR 2.		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.412G>C	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429865	0.43122	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);	0.324184	0.31472	N	0.007599	T	0.40670	0.1126	L	0.57536	1.79	0.32333	N	0.560867	P;P	0.42584	0.718;0.784	B;B	0.42625	0.368;0.393	T	0.46386	-0.9195	10	0.13853	T	0.58	-27.6469	13.7281	0.62769	0.0:1.0:0.0:0.0	.	138;138	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	Q	138	ENSP00000377690:E138Q;ENSP00000377693:E138Q;ENSP00000262074:E138Q;ENSP00000377692:E138Q;ENSP00000377688:E138Q;ENSP00000457901:E138Q	ENSP00000262074:E138Q	E	-	1	0	TTC23	97576669	0.924000	0.31332	0.776000	0.31678	0.601000	0.36947	4.009000	0.57110	2.618000	0.88619	0.655000	0.94253	GAG		0.393	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2		NM_022905		19	216	0	0	0	0.007413	0	19	216		
BAIAP3	8938	broad.mit.edu	37	16	1391337	1391337	+	Missense_Mutation	SNP	C	C	T	rs537419858		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:1391337C>T	ENST00000324385.5	+	8	841	c.683C>T	c.(682-684)tCg>tTg	p.S228L	BAIAP3_ENST00000397489.1_Missense_Mutation_p.S210L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S193L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S210L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S193L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S165L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S170L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.S228L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTGCCTGCCTCGGACGCCACG	0.706																																						uc002clk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(682-684)TCG>TTG		BAI1-associated protein 3							26.0	27.0	27.0					16																	1391337		2193	4284	6477	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1391337C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.683C>T	16.37:g.1391337C>T	ENSP00000324510:p.Ser228Leu					BAIAP3_uc002clj.2_Missense_Mutation_p.S210L|BAIAP3_uc010uuz.1_Missense_Mutation_p.S193L|BAIAP3_uc010uva.1_Missense_Mutation_p.S165L|BAIAP3_uc010uvb.1_Missense_Mutation_p.S245L|BAIAP3_uc010uvc.1_Missense_Mutation_p.S193L	p.S228L	NM_003933	NP_003924	O94812	BAIP3_HUMAN			8	683	+		Hepatocellular(780;0.0893)	228			C2 1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.683C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541406	0.45280	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;1.02	4.72	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.389077	0.23949	N	0.042976	T	0.78509	0.4294	L	0.36672	1.1	0.32828	D	0.503698	D;D;D;D;D	0.65815	0.975;0.995;0.967;0.988;0.994	B;P;P;P;P	0.60886	0.356;0.821;0.686;0.793;0.88	T	0.77832	-0.2441	10	0.29301	T	0.29	-12.1023	5.1603	0.15058	0.2182:0.6752:0.0:0.1066	.	193;245;170;228;210	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	L	193;210;228;210;193	ENSP00000407242:S193L;ENSP00000380625:S210L;ENSP00000324510:S228L;ENSP00000380626:S210L;ENSP00000409533:S193L	ENSP00000324510:S228L	S	+	2	0	BAIAP3	1331338	1.000000	0.71417	0.946000	0.38457	0.122000	0.20287	3.587000	0.53957	2.438000	0.82558	0.313000	0.20887	TCG		0.706	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3				9	29	0	0	0	0.008291	0	9	29		
AMDHD2	51005	broad.mit.edu	37	16	2570828	2570828	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:2570828G>A	ENST00000293971.6	+	2	236	c.142G>A	c.(142-144)Gag>Aag	p.E48K	AMDHD2_ENST00000413459.3_Missense_Mutation_p.E48K|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000302956.4_Missense_Mutation_p.E48K	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	48					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)	p.E48K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTTCTTTGAGGAGCGGCGCGT	0.711																																						uc002cqq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|large_intestine(1)|breast(1)	4						c.(142-144)GAG>AAG		amidohydrolase domain containing 2 isoform 1							20.0	25.0	23.0					16																	2570828		2191	4295	6486	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2570828G>A	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.142G>A	16.37:g.2570828G>A	ENSP00000293971:p.Glu48Lys					AMDHD2_uc002cqp.2_Missense_Mutation_p.E48K|AMDHD2_uc010uwc.1_Missense_Mutation_p.E48K|AMDHD2_uc010uwd.1_Intron	p.E48K	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN			2	239	+			48					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.957838	0.97145	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	T;T;T	0.10573	2.86;2.86;2.86	4.68	3.65	0.41850	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	M	0.82517	2.595	0.80722	D	1	D;D;D	0.62365	0.971;0.984;0.991	D;P;D	0.66847	0.91;0.885;0.947	T	0.06409	-1.0828	10	0.29301	T	0.29	-7.7604	13.2895	0.60262	0.0:0.1601:0.8399:0.0	.	48;48;48	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	K	48	ENSP00000391596:E48K;ENSP00000307481:E48K;ENSP00000293971:E48K	ENSP00000293971:E48K	E	+	1	0	AMDHD2	2510829	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.318000	0.79029	2.311000	0.77944	0.462000	0.41574	GAG		0.711	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1		NM_015944		6	13	0	0	0	0.001855	0	6	13		
ADCY9	115	broad.mit.edu	37	16	4016190	4016190	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:4016190C>G	ENST00000294016.3	-	11	4186	c.3648G>C	c.(3646-3648)ttG>ttC	p.L1216F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1216					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.L1216F(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCATCTTGCTCAAGACGCGGT	0.572																																						uc002cvx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3646-3648)TTG>TTC		adenylate cyclase 9							218.0	183.0	195.0					16																	4016190		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016190C>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3648G>C	16.37:g.4016190C>G	ENSP00000294016:p.Leu1216Phe						p.L1216F	NM_001116	NP_001107	O60503	ADCY9_HUMAN			11	4187	-			1216			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3648G>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001816	0.54254	.	.	ENSG00000162104	ENST00000294016	D	0.86956	-2.19	5.77	1.61	0.23674	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.95642	0.8583	H	0.99368	4.535	0.42764	D	0.993817	D	0.89917	1.0	D	0.97110	1.0	D	0.93574	0.6906	10	0.72032	D	0.01	.	8.0675	0.30669	0.0:0.4971:0.3103:0.1926	.	1216	O60503	ADCY9_HUMAN	F	1216	ENSP00000294016:L1216F	ENSP00000294016:L1216F	L	-	3	2	ADCY9	3956191	0.988000	0.35896	1.000000	0.80357	0.986000	0.74619	0.193000	0.17116	0.441000	0.26529	-0.140000	0.14226	TTG		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1				10	140	0	0	0	0.010729	0	10	140		
PALB2	79728	broad.mit.edu	37	16	23640969	23640969	+	Missense_Mutation	SNP	C	C	T	rs536644825		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:23640969C>T	ENST00000261584.4	-	5	2658	c.2506G>A	c.(2506-2508)Gtc>Atc	p.V836I		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	836	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V836I(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACCTGTTCGACGGAATGTTTA	0.443			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					C|||	1	0.000199681	0.0	0.0	5008	,	,		21360	0.0		0.0	False		,,,				2504	0.001					uc002dlx.1		NaN	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(2506-2508)GTC>ATC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							76.0	78.0	78.0					16																	23640969		2197	4300	6497	SO:0001583	missense	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23640969C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2506G>A	16.37:g.23640969C>T	ENSP00000261584:p.Val836Ile						p.V836I	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2706	-			836					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2506G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	2.505	-0.314311	0.05422	.	.	ENSG00000083093	ENST00000261584	T	0.14766	2.48	5.45	-10.9	0.00192	.	2.041890	0.01713	N	0.027801	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.14699	-1.0463	10	0.19590	T	0.45	2.3537	10.1381	0.42719	0.0821:0.632:0.166:0.1199	.	836	Q86YC2	PALB2_HUMAN	I	836	ENSP00000261584:V836I	ENSP00000261584:V836I	V	-	1	0	PALB2	23548470	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.591000	0.00211	-3.383000	0.00174	-2.127000	0.00345	GTC		0.443	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2		NM_024675		14	74	0	0	0	0.001855	0	14	74		
SH2B1	25970	broad.mit.edu	37	16	28878108	28878108	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:28878108G>A	ENST00000322610.8	+	4	1132	c.693G>A	c.(691-693)ctG>ctA	p.L231L	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Silent_p.L231L|SH2B1_ENST00000359285.5_Silent_p.L231L|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Silent_p.L231L|SH2B1_ENST00000563674.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	231	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.|Required for nuclear localization. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L231L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTGAGAGGCTGAGACTCAGTC	0.622																																						uc002dri.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(691-693)CTG>CTA		SH2B adaptor protein 1 isoform 1							33.0	34.0	34.0					16																	28878108		2197	4300	6497	SO:0001819	synonymous_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28878108G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.693G>A	16.37:g.28878108G>A						uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Silent_p.L231L|SH2B1_uc002drk.2_Silent_p.L231L|SH2B1_uc002drl.2_Silent_p.L231L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Silent_p.L231L|SH2B1_uc002drm.2_Silent_p.L231L	p.L231L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			4	1132	+			231			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).|Required for nuclear localization (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.693G>A	CCDS53996.1																																																																																				0.622	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		11	29	0	0	0	0.008291	0	11	29		
ABCC11	85320	broad.mit.edu	37	16	48264436	48264436	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:48264436G>C	ENST00000394747.1	-	2	497	c.148C>G	c.(148-150)Cct>Gct	p.P50A	ABCC11_ENST00000353782.5_Missense_Mutation_p.P50A|ABCC11_ENST00000356608.2_Missense_Mutation_p.P50A|ABCC11_ENST00000394748.1_Missense_Mutation_p.P50A|ABCC11_ENST00000537808.1_Missense_Mutation_p.P50A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	50					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.P50A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GGAGCCTCAGGATTTCTCTCT	0.498																																						uc002eff.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(148-150)CCT>GCT		ATP-binding cassette, sub-family C, member 11							43.0	43.0	43.0					16																	48264436		2200	4300	6500	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48264436G>C	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.148C>G	16.37:g.48264436G>C	ENSP00000378230:p.Pro50Ala					ABCC11_uc002efg.1_Missense_Mutation_p.P50A|ABCC11_uc002efh.1_Missense_Mutation_p.P50A|ABCC11_uc010vgl.1_Missense_Mutation_p.P50A	p.P50A	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			2	498	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	50			Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.148C>G	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	4.714	0.132818	0.09032	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92199	-2.76;-2.66;-2.66;-2.66;-2.99	4.84	2.79	0.32731	.	0.834582	0.10337	N	0.686805	D	0.84999	0.5597	L	0.36672	1.1	0.09310	N	1	B;B	0.18741	0.03;0.004	B;B	0.18561	0.022;0.002	T	0.69139	-0.5224	10	0.10902	T	0.67	-4.756	6.216	0.20656	0.0993:0.0:0.7192:0.1815	.	50;50	Q96J66-2;Q96J66	.;ABCCB_HUMAN	A	50	ENSP00000311326:P50A;ENSP00000349017:P50A;ENSP00000378231:P50A;ENSP00000378230:P50A;ENSP00000438530:P50A	ENSP00000311326:P50A	P	-	1	0	ABCC11	46821937	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.627000	0.24506	0.985000	0.38656	0.591000	0.81541	CCT		0.498	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583		4	44	0	0	0	0.001984	0	4	44		
ZNF423	23090	broad.mit.edu	37	16	49671947	49671947	+	Silent	SNP	G	G	A	rs370201380		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:49671947G>A	ENST00000561648.1	-	4	1169	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	ZNF423_ENST00000567169.1_Silent_p.P255P|ZNF423_ENST00000262383.2_Silent_p.P372P|ZNF423_ENST00000562520.1_Silent_p.P312P|ZNF423_ENST00000562871.1_Silent_p.P312P|ZNF423_ENST00000535559.1_Silent_p.P255P|ZNF423_ENST00000563137.2_Silent_p.P312P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	372					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P372P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTGGAGTCGGGTGTGGCGC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		17727	0.001		0.0	False		,,,				2504	0.0					uc002efs.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1114-1116)CCC>CCT		zinc finger protein 423		G		2,4394	4.2+/-10.8	0,2,2196	29.0	31.0	30.0		1116	-10.0	0.0	16		30	0,8600		0,0,4300	no	coding-synonymous	ZNF423	NM_015069.2		0,2,6496	AA,AG,GG		0.0,0.0455,0.0154		372/1285	49671947	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671947G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1116C>T	16.37:g.49671947G>A						ZNF423_uc010vgn.1_Silent_p.P255P	p.P372P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1414	-		all_cancers(37;0.0155)	372					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.1116C>T	CCDS32445.1																																																																																				0.677	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069		5	21	0	0	0	0.000602	0	5	21		
HEATR3	55027	broad.mit.edu	37	16	50100305	50100305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:50100305G>A	ENST00000299192.7	+	2	357	c.166G>A	c.(166-168)Gag>Aag	p.E56K	HEATR3_ENST00000285767.4_Intron|RP11-429P3.3_ENST00000568130.2_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	56								p.E56K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CGAGGTCCGCGAGTGCGCCTG	0.756																																						uc002efw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(166-168)GAG>AAG		HEAT repeat containing 3							8.0	10.0	9.0					16																	50100305		1789	3670	5459	SO:0001583	missense	55027						binding	g.chr16:50100305G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.166G>A	16.37:g.50100305G>A	ENSP00000299192:p.Glu56Lys					HEATR3_uc002efx.2_Intron	p.E56K	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			2	328	+			56			HEAT 1.		A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.166G>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679463	0.88542	.	.	ENSG00000155393	ENST00000299192	T	0.33865	1.39	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.054450	0.64402	D	0.000001	T	0.53674	0.1811	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48758	-0.9007	10	0.09084	T	0.74	.	16.5296	0.84354	0.0:0.0:1.0:0.0	.	56	Q7Z4Q2	HEAT3_HUMAN	K	56	ENSP00000299192:E56K	ENSP00000299192:E56K	E	+	1	0	HEATR3	48657806	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.366000	0.90111	2.298000	0.77334	0.462000	0.41574	GAG		0.756	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2		NM_182922		3	5	0	0	0	0.009096	0	3	5		
NLRC5	84166	broad.mit.edu	37	16	57065331	57065331	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:57065331C>T	ENST00000262510.6	+	11	2658	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	NLRC5_ENST00000539144.1_Silent_p.I811I|NLRC5_ENST00000436936.1_Silent_p.I811I|NLRC5_ENST00000308149.7_Silent_p.I811I	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	811					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.I811I(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CGGACCTCATCTTCCTTCTTT	0.562																																						uc002ekk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|skin(2)|breast(1)	7						c.(2431-2433)ATC>ATT		nucleotide-binding oligomerization domains 27							135.0	112.0	119.0					16																	57065331		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57065331C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2433C>T	16.37:g.57065331C>T						NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.I560I|NLRC5_uc002ekl.2_Silent_p.I616I|NLRC5_uc002ekm.2_Silent_p.I616I|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank	p.I811I	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			11	2658	+		all_neural(199;0.225)	811					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.2433C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088486	0.20390	.	.	ENSG00000140853	ENST00000538805	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	T	0.62636	0.2444	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59731	-0.7399	4	.	.	.	.	12.3072	0.54908	0.0:1.0:0.0:0.0	.	.	.	.	F	564	.	.	L	+	1	0	NLRC5	55622832	0.986000	0.35501	0.998000	0.56505	0.874000	0.50279	2.968000	0.49224	2.632000	0.89209	0.561000	0.74099	CTT		0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206		4	48	0	0	0	0.009096	0	4	48		
EDC4	23644	broad.mit.edu	37	16	67909846	67909846	+	Splice_Site	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:67909846A>T	ENST00000358933.5	+	2	321		c.e2-1		AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4						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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTTGTCCCCAGGCCCCAGTG	0.557																																						uc002eur.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)	4						c.e2-2		autoantigen RCD8							84.0	82.0	83.0					16																	67909846		2198	4300	6498	SO:0001630	splice_region_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67909846A>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.83-1A>T	16.37:g.67909846A>T						EDC4_uc010cer.2_Splice_Site|EDC4_uc010vkg.1_Splice_Site|EDC4_uc010ces.1_5'Flank|EDC4_uc002eus.2_5'Flank	p.G28_splice	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	2	249	+		Ovarian(137;0.0563)						A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Splice_Site	SNP	ENST00000358933.5	37	c.83_splice	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143962	0.77888	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5735	0.68229	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EDC4	66467347	1.000000	0.71417	0.931000	0.37212	0.965000	0.64279	5.858000	0.69532	2.269000	0.75478	0.533000	0.62120	.		0.557	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329	Intron	46	120	0	0	0	0.011902	0	46	120		
VAT1L	57687	broad.mit.edu	37	16	77859262	77859262	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:77859262C>T	ENST00000302536.2	+	3	636	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	161							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.F161F(2)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTGCTGCATTCCCCATGAACT	0.537																																						uc002ffg.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	central_nervous_system(1)	1						c.(481-483)TTC>TTT		vesicle amine transport protein 1 homolog (T.							124.0	98.0	107.0					16																	77859262		2198	4300	6498	SO:0001819	synonymous_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77859262C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.483C>T	16.37:g.77859262C>T							p.F161F	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			3	580	+			161					Q8IYW8	Silent	SNP	ENST00000302536.2	37	c.483C>T	CCDS32492.1																																																																																				0.537	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1		NM_020927		4	39	0	0	0	0.009096	0	4	39		
PKD1L2	114780	broad.mit.edu	37	16	81249935	81249935	+	RNA	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:81249935G>A	ENST00000525539.1	-	0	377				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.D126D(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCGCAGGTGTCAGGGGCAG	0.657																																						uc002fgh.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(376-378)GAC>GAT		polycystin 1-like 2 isoform a							57.0	72.0	67.0					16																	81249935		2066	4208	6274			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81249935G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81249935G>A						PKD1L2_uc002fgj.2_Silent_p.D126D	p.D126D	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			2	378	-			126			Extracellular (Potential).|C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.378C>T																																																																																					0.657	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2				14	37	0	0	0	0.00333	0	14	37		
CDH15	1013	broad.mit.edu	37	16	89254631	89254631	+	Missense_Mutation	SNP	G	G	A	rs575142201		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:89254631G>A	ENST00000289746.2	+	7	981	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D306N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGGCGACCCCGATGGGCAGTT	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14184	0.0		0.0	False		,,,				2504	0.0					uc002fmt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(916-918)GAT>AAT		cadherin 15 preproprotein							64.0	53.0	57.0					16																	89254631		2197	4300	6497	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89254631G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.916G>A	16.37:g.89254631G>A	ENSP00000289746:p.Asp306Asn						p.D306N	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	7	993	+			306			Cadherin 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.916G>A	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107655	0.20714	.	.	ENSG00000129910	ENST00000289746	T	0.52295	0.67	4.45	1.28	0.21552	Cadherin (4);Cadherin-like (1);	1.087950	0.07153	N	0.849475	T	0.31451	0.0797	N	0.21545	0.675	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.26052	-1.0114	10	0.17832	T	0.49	.	7.0576	0.25107	0.4038:0.0:0.5962:0.0	.	306	P55291	CAD15_HUMAN	N	306	ENSP00000289746:D306N	ENSP00000289746:D306N	D	+	1	0	CDH15	87782132	0.000000	0.05858	0.018000	0.16275	0.517000	0.34286	0.173000	0.16724	0.010000	0.14839	0.449000	0.29647	GAT		0.647	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1		NM_004933		3	21	0	0	0	0.004672	0	3	21		
PRPF8	10594	broad.mit.edu	37	17	1582371	1582371	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:1582371G>A	ENST00000572621.1	-	10	1804	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	PRPF8_ENST00000304992.6_Silent_p.L513L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	513					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.L513L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCAGGTAGTTGAGGTTTTTGC	0.542																																						uc002fte.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|ovary(2)	6						c.(1537-1539)CTC>CTT		U5 snRNP-specific protein							184.0	164.0	171.0					17																	1582371		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582371G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1539C>T	17.37:g.1582371G>A							p.L513L	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	11	1653	-			513					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.1539C>T	CCDS11010.1																																																																																				0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2				26	83	0	0	0	0.00632	0	26	83		
MYH2	4620	broad.mit.edu	37	17	10432249	10432249	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:10432249C>T	ENST00000245503.5	-	27	3886	c.3502G>A	c.(3502-3504)Gag>Aag	p.E1168K	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1168K|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1168					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1168K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGTTCATCTCAATCTGGGCT	0.612																																						uc010coi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3502-3504)GAG>AAG		myosin heavy chain IIa							69.0	78.0	75.0					17																	10432249		2203	4297	6500	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432249C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3502G>A	17.37:g.10432249C>T	ENSP00000245503:p.Glu1168Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1168K|MYH2_uc010coj.2_Intron	p.E1168K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3630	-			1168			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3502G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936713	0.92458	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83335	-1.71;-1.71	5.09	5.09	0.68999	Myosin tail (1);	0.180616	0.26106	U	0.026320	D	0.92831	0.7720	M	0.92219	3.285	0.58432	D	0.999991	P	0.42941	0.794	P	0.58391	0.838	D	0.93991	0.7267	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1168	Q9UKX2	MYH2_HUMAN	K	1168	ENSP00000245503:E1168K;ENSP00000380367:E1168K	ENSP00000245503:E1168K	E	-	1	0	MYH2	10372974	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	GAG		0.612	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534		10	106	0	0	0	0.001855	0	10	106		
MYH3	4621	broad.mit.edu	37	17	10535904	10535904	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:10535904G>C	ENST00000583535.1	-	34	4932	c.4845C>G	c.(4843-4845)ctC>ctG	p.L1615L	MYH3_ENST00000226209.7_Silent_p.L1615L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1615					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.L1615L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTCTTCTTGAGCCGGATGG	0.587																																						uc002gmq.1		NaN																	1	Substitution - coding silent(1)	p.L1615R(1)	urinary_tract(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4843-4845)CTC>CTG		myosin, heavy chain 3, skeletal muscle,							224.0	221.0	222.0					17																	10535904		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10535904G>C		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4845C>G	17.37:g.10535904G>C							p.L1615L	NM_002470	NP_002461	P11055	MYH3_HUMAN			33	4922	-			1615			Potential.		Q15492	Silent	SNP	ENST00000583535.1	37	c.4845C>G	CCDS11157.1																																																																																				0.587	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470		6	325	0	0	0	0.00308	0	6	325		
RAI1	10743	broad.mit.edu	37	17	17699982	17699982	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17699982C>G	ENST00000353383.1	+	3	4189	c.3720C>G	c.(3718-3720)gtC>gtG	p.V1240V	RAI1_ENST00000261641.6_Silent_p.V1240V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1240					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.V1240V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAACCTGGTCTTGCGGAGCC	0.632																																						uc002grm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(3718-3720)GTC>GTG		retinoic acid induced 1							28.0	32.0	30.0					17																	17699982		2203	4299	6502	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699982C>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3720C>G	17.37:g.17699982C>G						RAI1_uc002grn.1_Silent_p.V1240V	p.V1240V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4189	+			1240			Nuclear localization signal (Potential).		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.3720C>G	CCDS11188.1																																																																																				0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		5	20	0	0	0	0.000602	0	5	20		
RAI1	10743	broad.mit.edu	37	17	17700179	17700179	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700179C>G	ENST00000353383.1	+	3	4386	c.3917C>G	c.(3916-3918)tCt>tGt	p.S1306C	RAI1_ENST00000261641.6_Missense_Mutation_p.S1306C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1306					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1306C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGCTCGCCTCTCGGGCAGCC	0.652																																						uc002grm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(3916-3918)TCT>TGT		retinoic acid induced 1							49.0	60.0	57.0					17																	17700179		2203	4299	6502	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700179C>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3917C>G	17.37:g.17700179C>G	ENSP00000323074:p.Ser1306Cys					RAI1_uc002grn.1_Missense_Mutation_p.S1306C	p.S1306C	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4386	+			1306					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.3917C>G	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143984	0.37825	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.71817	-0.6;-0.02	4.44	4.44	0.53790	.	0.224693	0.30193	N	0.010187	T	0.78761	0.4334	L	0.59436	1.845	0.09310	N	0.999997	D	0.69078	0.997	P	0.57371	0.819	T	0.73036	-0.4109	10	0.72032	D	0.01	.	17.2396	0.87009	0.0:1.0:0.0:0.0	.	1306	Q7Z5J4	RAI1_HUMAN	C	1306;1306;1306;1258	ENSP00000323074:S1306C;ENSP00000261641:S1306C	ENSP00000261641:S1306C	S	+	2	0	RAI1	17640904	0.667000	0.27484	0.013000	0.15412	0.617000	0.37484	4.545000	0.60698	2.304000	0.77564	0.313000	0.20887	TCT		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		16	77	0	0	0	0.004007	0	16	77		
RAI1	10743	broad.mit.edu	37	17	17700285	17700285	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700285C>G	ENST00000353383.1	+	3	4492	c.4023C>G	c.(4021-4023)ctC>ctG	p.L1341L	RAI1_ENST00000261641.6_Silent_p.L1341L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1341					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.L1341L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGCCCAGCCTCAAGAAGTTCG	0.632																																						uc002grm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(4021-4023)CTC>CTG		retinoic acid induced 1							64.0	73.0	70.0					17																	17700285		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700285C>G	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4023C>G	17.37:g.17700285C>G						RAI1_uc002grn.1_Silent_p.L1341L	p.L1341L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4492	+			1341					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.4023C>G	CCDS11188.1																																																																																				0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		22	78	0	0	0	0.010504	0	22	78		
RAI1	10743	broad.mit.edu	37	17	17700331	17700331	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700331C>A	ENST00000353383.1	+	3	4538	c.4069C>A	c.(4069-4071)Ctg>Atg	p.L1357M	RAI1_ENST00000261641.6_Missense_Mutation_p.L1357M	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1357					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.L1357M(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGTAATCCTCTGAGCCCATC	0.622																																						uc002grm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(4069-4071)CTG>ATG		retinoic acid induced 1							58.0	67.0	64.0					17																	17700331		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700331C>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4069C>A	17.37:g.17700331C>A	ENSP00000323074:p.Leu1357Met					RAI1_uc002grn.1_Missense_Mutation_p.L1357M	p.L1357M	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4538	+			1357					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4069C>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	5.657	0.305769	0.10733	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.68903	-0.36;0.21	4.97	1.67	0.24075	.	0.896444	0.09213	N	0.832961	T	0.64450	0.2599	L	0.40543	1.245	0.20703	N	0.999866	B	0.29085	0.232	B	0.35607	0.206	T	0.58183	-0.7681	10	0.56958	D	0.05	.	15.6142	0.76753	0.0:0.6086:0.3913:0.0	.	1357	Q7Z5J4	RAI1_HUMAN	M	1357;1357;1357;1309	ENSP00000323074:L1357M;ENSP00000261641:L1357M	ENSP00000261641:L1357M	L	+	1	2	RAI1	17641056	0.890000	0.30428	0.052000	0.19188	0.303000	0.27691	2.434000	0.44802	0.100000	0.17581	0.313000	0.20887	CTG		0.622	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		18	94	1	0	1.67942e-08	0.006122	1.81137e-08	18	94		
RAI1	10743	broad.mit.edu	37	17	17700911	17700911	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700911C>T	ENST00000353383.1	+	3	5118	c.4649C>T	c.(4648-4650)tCt>tTt	p.S1550F	RAI1_ENST00000261641.6_Missense_Mutation_p.S1550F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1550					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1550F(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AACACCACCTCTTCACCCTGT	0.612																																						uc002grm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2	GRCh37	CD056839	RAI1	D		c.(4648-4650)TCT>TTT		retinoic acid induced 1							57.0	67.0	63.0					17																	17700911		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700911C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4649C>T	17.37:g.17700911C>T	ENSP00000323074:p.Ser1550Phe					RAI1_uc002grn.1_Missense_Mutation_p.S1550F	p.S1550F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5118	+			1550					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4649C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	7.130	0.579676	0.13686	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.66638	-0.22;0.36	4.73	4.73	0.59995	.	0.493161	0.20233	N	0.096447	T	0.47060	0.1425	N	0.19112	0.55	0.09310	N	1	P	0.38642	0.641	B	0.31614	0.133	T	0.49826	-0.8898	10	0.56958	D	0.05	.	10.5824	0.45263	0.1924:0.8076:0.0:0.0	.	1550	Q7Z5J4	RAI1_HUMAN	F	1550;1550;1550;1438	ENSP00000323074:S1550F;ENSP00000261641:S1550F	ENSP00000261641:S1550F	S	+	2	0	RAI1	17641636	0.001000	0.12720	0.677000	0.29947	0.166000	0.22503	0.903000	0.28475	2.621000	0.88768	0.561000	0.74099	TCT		0.612	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		10	64	0	0	0	0.010729	0	10	64		
RAI1	10743	broad.mit.edu	37	17	17700914	17700914	+	Missense_Mutation	SNP	C	C	T	rs202158738		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700914C>T	ENST00000353383.1	+	3	5121	c.4652C>T	c.(4651-4653)tCa>tTa	p.S1551L	RAI1_ENST00000261641.6_Missense_Mutation_p.S1551L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1551					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.S1551L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCACCTCTTCACCCTGTAAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18579	0.0		0.001	False		,,,				2504	0.0					uc002grm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(4651-4653)TCA>TTA		retinoic acid induced 1		C	LEU/SER	0,4406		0,0,2203	57.0	67.0	63.0		4652	3.7	0.9	17		63	3,8597	3.0+/-9.4	0,3,4297	yes	missense	RAI1	NM_030665.3	145	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	1551/1907	17700914	3,13003	2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700914C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4652C>T	17.37:g.17700914C>T	ENSP00000323074:p.Ser1551Leu					RAI1_uc002grn.1_Missense_Mutation_p.S1551L	p.S1551L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5121	+			1551					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.4652C>T	CCDS11188.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.93	2.083978	0.36758	0.0	3.49E-4	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000261641;ENST00000315321	T;T	0.66995	-0.24;0.36	4.73	3.68	0.42216	.	0.449103	0.19460	N	0.113733	T	0.46171	0.1379	L	0.27053	0.805	0.09310	N	1	P	0.44816	0.844	B	0.33454	0.164	T	0.48636	-0.9018	10	0.51188	T	0.08	.	9.63	0.39774	0.2081:0.7918:0.0:0.0	.	1551	Q7Z5J4	RAI1_HUMAN	L	1551;1551;1551;1439	ENSP00000323074:S1551L;ENSP00000261641:S1551L	ENSP00000261641:S1551L	S	+	2	0	RAI1	17641639	0.071000	0.21146	0.886000	0.34754	0.176000	0.22953	1.358000	0.34102	2.621000	0.88768	0.561000	0.74099	TCA		0.607	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		10	62	0	0	0	0.010729	0	10	62		
RAI1	10743	broad.mit.edu	37	17	17701368	17701368	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17701368C>T	ENST00000353383.1	+	3	5575	c.5106C>T	c.(5104-5106)ctC>ctT	p.L1702L	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1702					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.L1702L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGGGGACCTCTGTGGGCCCT	0.592																																						uc002grm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(5104-5106)CTC>CTT		retinoic acid induced 1							74.0	77.0	76.0					17																	17701368		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701368C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5106C>T	17.37:g.17701368C>T						RAI1_uc002grn.1_Silent_p.L1702L	p.L1702L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5575	+			1702					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.5106C>T	CCDS11188.1																																																																																				0.592	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		7	48	0	0	0	0.00308	0	7	48		
SLC13A2	9058	broad.mit.edu	37	17	26820718	26820718	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:26820718C>T	ENST00000314669.5	+	7	1428	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SLC13A2_ENST00000545060.1_Silent_p.F293F|SLC13A2_ENST00000444914.3_Silent_p.F385F|SLC13A2_ENST00000537681.1_Silent_p.F265F	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	336					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.F336F(1)|p.F385F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCCTATTCGTCATCCTGG	0.577																																						uc002hbh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1006-1008)TTC>TTT		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						70.0	68.0	69.0					17																	26820718		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26820718C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1008C>T	17.37:g.26820718C>T						SLC13A2_uc010wal.1_Silent_p.F293F|SLC13A2_uc010wam.1_Silent_p.F292F|SLC13A2_uc010wan.1_Silent_p.F385F|SLC13A2_uc010wao.1_Silent_p.F293F|SLC13A2_uc002hbi.2_Silent_p.F265F	p.F336F	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	1075	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		336			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.1008C>T	CCDS11231.1																																																																																				0.577	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1		NM_003984		7	144	0	0	0	0.001984	0	7	144		
SUPT6H	6830	broad.mit.edu	37	17	27000447	27000447	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:27000447G>A	ENST00000314616.6	+	2	311	c.28G>A	c.(28-30)Gag>Aag	p.E10K	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.E10K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	10	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E10K(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGCGAGGCTGAGGAGTCAGA	0.483																																						uc002hby.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(28-30)GAG>AAG		suppressor of Ty 6 homolog							88.0	82.0	84.0					17																	27000447		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27000447G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.28G>A	17.37:g.27000447G>A	ENSP00000319104:p.Glu10Lys					SUPT6H_uc010crt.2_Missense_Mutation_p.E10K	p.E10K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			2	118	+	Lung NSC(42;0.00431)		10			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.28G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269207	0.59540	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.93	5.93	0.95920	.	0.049030	0.85682	D	0.000000	T	0.64159	0.2573	N	0.19112	0.55	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.66192	-0.5985	9	0.59425	D	0.04	-24.8065	20.3409	0.98764	0.0:0.0:1.0:0.0	.	10	Q7KZ85	SPT6H_HUMAN	K	10	.	ENSP00000319104:E10K	E	+	1	0	SUPT6H	24024574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.354000	0.97083	2.814000	0.96858	0.655000	0.94253	GAG		0.483	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		8	47	0	0	0	0.00308	0	8	47		
MYO18A	399687	broad.mit.edu	37	17	27421806	27421806	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:27421806C>T	ENST00000527372.1	-	30	4752	c.4572G>A	c.(4570-4572)caG>caA	p.Q1524Q	MYO18A_ENST00000533112.1_Silent_p.Q1524Q|MYO18A_ENST00000354329.4_Silent_p.Q1524Q|MYO18A_ENST00000531253.1_Silent_p.Q1524Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1524					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.Q1524Q(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGAAATGTCCTGGAGCTCTG	0.537																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(4570-4572)CAG>CAA		myosin 18A isoform a							134.0	131.0	132.0					17																	27421806		1934	4152	6086	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27421806C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4572G>A	17.37:g.27421806C>T						MYO18A_uc010wbc.1_Silent_p.Q1066Q|MYO18A_uc002hds.2_Silent_p.Q1066Q|MYO18A_uc010csa.1_Silent_p.Q1524Q|MYO18A_uc002hdu.1_Silent_p.Q1524Q	p.Q1524Q	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		30	4730	-			1524			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.4572G>A	CCDS45642.1																																																																																				0.537	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		10	264	0	0	0	0.008291	0	10	264		
TEFM	79736	broad.mit.edu	37	17	29227537	29227537	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:29227537A>G	ENST00000581216.1	-	3	1160	c.539T>C	c.(538-540)aTt>aCt	p.I180T	TEFM_ENST00000580840.1_Missense_Mutation_p.I180T|TEFM_ENST00000579183.1_5'Flank	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	180					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)	p.I180T(1)									AGCCCAGGCAATTCTTCGAGT	0.343																																						uc002hfu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(538-540)ATT>ACT		hypothetical protein LOC79736							123.0	116.0	118.0					17																	29227537		1882	4114	5996	SO:0001583	missense	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29227537A>G		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.539T>C	17.37:g.29227537A>G	ENSP00000462963:p.Ile180Thr					C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.I180T	p.I180T	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN			3	609	-		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	180					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	ENST00000581216.1	37	c.539T>C	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736477	0.49045	.	.	ENSG00000172171	ENST00000306049	.	.	.	5.87	5.87	0.94306	Ribonuclease H-like (1);	0.163554	0.56097	D	0.000038	T	0.68054	0.2959	M	0.72118	2.19	0.51767	D	0.999938	D	0.57899	0.981	P	0.52109	0.69	T	0.72600	-0.4244	9	0.72032	D	0.01	-22.066	15.2457	0.73504	1.0:0.0:0.0:0.0	.	180	Q96QE5	TEFM_HUMAN	T	180	.	ENSP00000306574:I180T	I	-	2	0	C17orf42	26251663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.732000	0.84908	2.239000	0.73571	0.528000	0.53228	ATT		0.343	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1		NM_024683		21	171	0	0	0	0.00333	0	21	171		
NF1	4763	broad.mit.edu	37	17	29576080	29576080	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:29576080C>G	ENST00000358273.4	+	30	4436	c.4053C>G	c.(4051-4053)atC>atG	p.I1351M	NF1_ENST00000356175.3_Missense_Mutation_p.I1351M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1351	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.I1351M(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCCATCATCAGTTCCTCCT	0.388			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	p.?(2)	soft_tissue(7)|urinary_tract(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(4051-4053)ATC>ATG		neurofibromin isoform 1							166.0	150.0	155.0					17																	29576080		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576080C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4053C>G	17.37:g.29576080C>G	ENSP00000351015:p.Ile1351Met	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.I1351M|NF1_uc010csn.1_Missense_Mutation_p.I1211M|NF1_uc002hgi.1_Missense_Mutation_p.I384M	p.I1351M	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4386	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1351			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.4053C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305988	0.60305	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.80214	-1.35;-1.35;-1.35	5.74	4.78	0.61160	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.100261	0.64402	D	0.000002	D	0.82770	0.5109	L	0.38531	1.155	0.80722	D	1	P;B;D;P	0.60575	0.788;0.129;0.988;0.647	P;B;D;P	0.72338	0.577;0.113;0.977;0.593	T	0.82388	-0.0482	10	0.48119	T	0.1	.	9.2406	0.37493	0.0:0.7719:0.0:0.2281	.	1351;401;1351;1351	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	M	1351;1351;1017	ENSP00000351015:I1351M;ENSP00000348498:I1351M;ENSP00000389907:I1017M	ENSP00000348498:I1351M	I	+	3	3	NF1	26600206	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.894000	0.39768	1.576000	0.49790	0.563000	0.77884	ATC		0.388	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		24	260	0	0	0	0.00278	0	24	260		
ACACA	31	broad.mit.edu	37	17	35512649	35512649	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:35512649G>A	ENST00000394406.2	-	43	5482	c.5292C>T	c.(5290-5292)ctC>ctT	p.L1764L	ACACA_ENST00000335166.5_Silent_p.L1686L|ACACA_ENST00000353139.5_Silent_p.L1801L|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Silent_p.L1706L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1764	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L1801L(1)|p.L1706L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACAGAGTTGAGAGCACTGA	0.358																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(1)|ovary(1)	2						c.(5290-5292)CTC>CTT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						144.0	139.0	140.0					17																	35512649		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35512649G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5292C>T	17.37:g.35512649G>A						ACACA_uc002hnk.2_Silent_p.L1686L|ACACA_uc002hnl.2_Silent_p.L1706L|ACACA_uc002hnn.2_Silent_p.L1764L|ACACA_uc002hno.2_Silent_p.L1801L|ACACA_uc010cuy.2_Silent_p.L409L|ACACA_uc010wdc.1_5'UTR	p.L1764L	NM_198836	NP_942133	Q13085	ACACA_HUMAN			43	5483	-		Breast(25;0.00157)|Ovarian(249;0.15)	1764			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.5292C>T	CCDS11317.1																																																																																				0.358	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		43	312	0	0	0	0.01441	0	43	312		
LASP1	3927	broad.mit.edu	37	17	37046755	37046755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:37046755C>T	ENST00000318008.6	+	3	578	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	LASP1_ENST00000433206.2_Intron|LASP1_ENST00000435347.3_Nonsense_Mutation_p.Q83*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	83					ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)	p.Q83*(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GCTCCAGAGTCAGGTGAGGGG	0.597			T	MLL	AML																																	uc002hra.2		NaN		Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		1	Substitution - Nonsense(1)		urinary_tract(1)	lung(1)	1						c.(247-249)CAG>TAG		LIM and SH3 protein 1							72.0	69.0	70.0					17																	37046755		2203	4300	6503	SO:0001587	stop_gained	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37046755C>T		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.247C>T	17.37:g.37046755C>T	ENSP00000325240:p.Gln83*					LASP1_uc010wdy.1_Nonsense_Mutation_p.Q83*|LASP1_uc010cvq.2_5'UTR|LASP1_uc010wdz.1_Intron	p.Q83*	NM_006148	NP_006139	Q14847	LASP1_HUMAN			3	578	+			83			Nebulin 1.		B4DGQ0|Q96ED2|Q96IG0	Nonsense_Mutation	SNP	ENST00000318008.6	37	c.247C>T	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	C	38	6.647728	0.97730	.	.	ENSG00000002834	ENST00000318008;ENST00000443937;ENST00000435347;ENST00000419929	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	17.7141	0.88331	0.0:1.0:0.0:0.0	.	.	.	.	X	83;83;83;47	.	ENSP00000325240:Q83X	Q	+	1	0	LASP1	34300281	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.447000	0.80620	2.528000	0.85240	0.561000	0.74099	CAG		0.597	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3		NM_006148		13	67	0	0	0	0.00245	0	13	67		
KRT24	192666	broad.mit.edu	37	17	38857538	38857538	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:38857538C>G	ENST00000264651.2	-	3	765	c.709G>C	c.(709-711)Gag>Cag	p.E237Q		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	237	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.E237Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGACACAGCTCGTTCTCATAC	0.507																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(709-711)GAG>CAG		keratin 24							55.0	51.0	52.0					17																	38857538		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857538C>G		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.709G>C	17.37:g.38857538C>G	ENSP00000264651:p.Glu237Gln						p.E237Q	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			3	766	-		Breast(137;0.00526)	237			Rod.|Coil 1B.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.709G>C	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605187	0.87157	.	.	ENSG00000167916	ENST00000264651	D	0.91180	-2.8	5.95	5.95	0.96441	Filament (1);	.	.	.	.	D	0.97349	0.9133	H	0.97158	3.95	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.97850	1.0274	9	0.87932	D	0	.	20.458	0.99154	0.0:1.0:0.0:0.0	.	237	Q2M2I5	K1C24_HUMAN	Q	237	ENSP00000264651:E237Q	ENSP00000264651:E237Q	E	-	1	0	KRT24	36111064	1.000000	0.71417	0.986000	0.45419	0.479000	0.33129	6.093000	0.71422	2.835000	0.97688	0.650000	0.86243	GAG		0.507	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1		NM_019016		6	60	0	0	0	0.001168	0	6	60		
KRTAP4-9	100132386	broad.mit.edu	37	17	39262231	39262231	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:39262231C>A	ENST00000391415.1	+	1	648	c.591C>A	c.(589-591)tcC>tcA	p.S197S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	197					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S185S(1)|p.S197S(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTGTCATCTCCAGCTGCCCCC	0.632																																						uc010wfp.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(589-591)TCC>TCA		keratin associated protein 4-9							50.0	61.0	58.0					17																	39262231		692	1590	2282	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262231C>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.591C>A	17.37:g.39262231C>A							p.S197S	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			1	591	+			197						Silent	SNP	ENST00000391415.1	37	c.591C>A	CCDS54124.1																																																																																				0.632	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1		NM_001146041		6	4	1	0	2.74318e-10	0.006214	2.96578e-10	6	4		
KLHL11	55175	broad.mit.edu	37	17	40011443	40011443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40011443C>G	ENST00000319121.3	-	2	736	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	226	BACK.							p.D226H(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGTATCATATCAGCAGCCTTC	0.383																																						uc002hyf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(676-678)GAT>CAT		kelch-like 11 precursor							82.0	82.0	82.0					17																	40011443		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40011443C>G		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.676G>C	17.37:g.40011443C>G	ENSP00000314608:p.Asp226His						p.D226H	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			2	682	-		Breast(137;0.00156)	226			BACK.			Missense_Mutation	SNP	ENST00000319121.3	37	c.676G>C	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301464	0.40694	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.69306	-0.39	4.84	4.84	0.62591	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	L	0.39397	1.21	0.80722	D	1	P	0.48694	0.914	P	0.50537	0.643	T	0.71629	-0.4535	10	0.52906	T	0.07	1.1298	17.9438	0.89034	0.0:1.0:0.0:0.0	.	226	Q9NVR0	KLH11_HUMAN	H	226;89	ENSP00000314608:D226H	ENSP00000314608:D226H	D	-	1	0	KLHL11	37264969	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	7.395000	0.79876	2.225000	0.72522	0.591000	0.81541	GAT		0.383	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2		NM_018143		44	162	0	0	0	0.01441	0	44	162		
ACLY	47	broad.mit.edu	37	17	40068681	40068681	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40068681C>T	ENST00000352035.2	-	3	404	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	ACLY_ENST00000537919.1_Missense_Mutation_p.E92K|ACLY_ENST00000590151.1_Missense_Mutation_p.E92K|ACLY_ENST00000353196.1_Missense_Mutation_p.E92K|ACLY_ENST00000393896.2_Missense_Mutation_p.E92K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	92	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.E92K(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACTGTGGCTTCCTGTCCCAGC	0.567																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(274-276)GAA>AAA		ATP citrate lyase isoform 1							108.0	87.0	94.0					17																	40068681		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40068681C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.274G>A	17.37:g.40068681C>T	ENSP00000253792:p.Glu92Lys					ACLY_uc002hyh.2_Missense_Mutation_p.E92K|ACLY_uc002hyi.2_Missense_Mutation_p.E146K|ACLY_uc010wfx.1_Missense_Mutation_p.E146K|ACLY_uc010wfy.1_Missense_Mutation_p.E92K	p.E92K	NM_001096	NP_001087	P53396	ACLY_HUMAN			3	437	-		Breast(137;0.000143)	92					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.274G>A	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374702	0.82573	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.69435	0.0;0.0;-0.4;0.0	5.76	5.76	0.90799	ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.047410	0.85682	D	0.000000	T	0.77579	0.4151	L	0.42632	1.34	0.80722	D	1	P;P;P;P;D	0.67145	0.956;0.812;0.843;0.587;0.996	D;B;P;B;D	0.72338	0.931;0.38;0.72;0.124;0.977	T	0.75508	-0.3293	10	0.44086	T	0.13	.	19.9504	0.97197	0.0:1.0:0.0:0.0	.	92;146;146;92;92	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	K	92;146;92;92;92	ENSP00000253792:E92K;ENSP00000345398:E92K;ENSP00000445349:E92K;ENSP00000377474:E92K	ENSP00000253792:E92K	E	-	1	0	ACLY	37322207	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.709000	0.84645	2.720000	0.93068	0.591000	0.81541	GAA		0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		7	111	0	0	0	0.010729	0	7	111		
KAT2A	2648	broad.mit.edu	37	17	40271680	40271680	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40271680C>G	ENST00000225916.5	-	5	809	c.756G>C	c.(754-756)caG>caC	p.Q252H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	252					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.Q252H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGAACATCGTCTGCCGCTCCC	0.547																																						uc002hyx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(754-756)CAG>CAC		general control of amino acid synthesis 5-like							50.0	49.0	50.0					17																	40271680		2203	4300	6503	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271680C>G	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.756G>C	17.37:g.40271680C>G	ENSP00000225916:p.Gln252His						p.Q252H	NM_021078	NP_066564	Q92830	KAT2A_HUMAN			5	816	-			252					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.756G>C	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902751	0.52227	.	.	ENSG00000108773	ENST00000225916	T	0.06608	3.28	5.2	2.13	0.27403	PCAF, N-terminal (1);	0.142496	0.50627	D	0.000105	T	0.06962	0.0177	M	0.63843	1.955	0.58432	D	0.999999	P	0.41710	0.76	B	0.37387	0.248	T	0.23547	-1.0185	10	0.54805	T	0.06	-23.9978	5.7869	0.18338	0.0:0.6342:0.1401:0.2256	.	252	Q92830	KAT2A_HUMAN	H	252	ENSP00000225916:Q252H	ENSP00000225916:Q252H	Q	-	3	2	KAT2A	37525206	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	4.103000	0.57783	0.223000	0.20920	0.555000	0.69702	CAG		0.547	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		NM_021078		19	63	0	0	0	0.012319	0	19	63		
CALCOCO2	10241	broad.mit.edu	37	17	46926617	46926617	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:46926617G>A	ENST00000258947.3	+	5	522	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.E162K|CALCOCO2_ENST00000416445.2_Intron|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.E69K|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.E165K	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	141					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.E141K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTTGTAGGGAGAGGTGGAAGA	0.463																																						uc002iof.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(421-423)GAG>AAG		calcium binding and coiled-coil domain 2							112.0	112.0	112.0					17																	46926617		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46926617G>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.421G>A	17.37:g.46926617G>A	ENSP00000258947:p.Glu141Lys					CALCOCO2_uc010wlp.1_Missense_Mutation_p.E162K|CALCOCO2_uc010wlq.1_Missense_Mutation_p.E69K|CALCOCO2_uc010wlr.1_Missense_Mutation_p.E165K|CALCOCO2_uc010wls.1_Intron	p.E141K	NM_005831	NP_005822	Q13137	CACO2_HUMAN			5	500	+			141			Potential.		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.421G>A	CCDS11538.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607405	0.46527	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000513119;ENST00000508679;ENST00000505071;ENST00000502761	T;T;T;T;T;T;T;T	0.46819	2.55;2.7;2.55;1.55;2.19;2.44;0.86;3.03	5.94	3.9	0.45041	.	0.197318	0.34986	N	0.003536	T	0.36110	0.0955	L	0.45285	1.41	0.38084	D	0.936756	B;B;B	0.16802	0.019;0.019;0.008	B;B;B	0.26864	0.074;0.057;0.04	T	0.16808	-1.0390	10	0.18710	T	0.47	-13.6155	6.6057	0.22724	0.1059:0.207:0.6871:0.0	.	165;162;141	B4DP36;E9PBE5;Q13137	.;.;CACO2_HUMAN	K	141;162;165;113;69;69;150;141	ENSP00000258947:E141K;ENSP00000424352:E162K;ENSP00000398523:E165K;ENSP00000425692:E113K;ENSP00000425090:E69K;ENSP00000423437:E69K;ENSP00000422697:E150K;ENSP00000424889:E141K	ENSP00000258947:E141K	E	+	1	0	CALCOCO2	44281616	1.000000	0.71417	0.982000	0.44146	0.879000	0.50718	1.904000	0.39868	0.739000	0.32628	0.561000	0.74099	GAG		0.463	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1		NM_005831		34	107	0	0	0	0.003271	0	34	107		
SLC35B1	10237	broad.mit.edu	37	17	47780327	47780327	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:47780327G>C	ENST00000240333.6	-	8	930	c.809C>G	c.(808-810)tCc>tGc	p.S270C	SLC35B1_ENST00000415270.2_Missense_Mutation_p.S307C			P78383	S35B1_HUMAN	solute carrier family 35, member B1	270					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)	p.S270C(1)		endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTGATGATGGAGCAGGTCAG	0.502																																						uc002iph.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(808-810)TCC>TGC		solute carrier family 35, member B1							145.0	140.0	142.0					17																	47780327		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780327G>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.809C>G	17.37:g.47780327G>C	ENSP00000240333:p.Ser270Cys					SLC35B1_uc002ipi.1_Missense_Mutation_p.S203C|SLC35B1_uc002ipj.1_Missense_Mutation_p.S146C	p.S270C	NM_005827	NP_005818	P78383	S35B1_HUMAN			8	896	-			270					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.809C>G	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814979	0.90790	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334	T;T;T	0.72051	-0.62;-0.62;1.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88190	0.6370	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.90777	0.4676	10	0.87932	D	0	-1.1021	18.4394	0.90660	0.0:0.0:1.0:0.0	.	203;270	D3DTX1;P78383	.;S35B1_HUMAN	C	270;307;146;146;203	ENSP00000240333:S270C;ENSP00000409548:S307C;ENSP00000423323:S203C	ENSP00000240333:S270C	S	-	2	0	SLC35B1	45135326	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.374000	0.97172	2.664000	0.90586	0.655000	0.94253	TCC		0.502	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2		NM_005827		8	127	0	0	0	0.004482	0	8	127		
MRPL27	51264	broad.mit.edu	37	17	48445522	48445522	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:48445522G>C	ENST00000225969.4	-	4	421	c.378C>G	c.(376-378)ctC>ctG	p.L126L	MRPL27_ENST00000503633.1_3'UTR|MRPL27_ENST00000511860.1_Silent_p.L71L|MRPL27_ENST00000507088.1_Silent_p.L71L|MRPL27_ENST00000442592.3_3'UTR	NM_016504.2	NP_057588.1	Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	126					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L126L(1)		endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AAGTCTTGTAGAGCACAGCAC	0.547																																						uc002iqq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(376-378)CTC>CTG		mitochondrial ribosomal protein L27							170.0	126.0	141.0					17																	48445522		2203	4300	6503	SO:0001819	synonymous_variant	51264				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:48445522G>C	AB049647	CCDS11564.1	17q21.3-q22	2012-09-13			ENSG00000108826	ENSG00000108826		"""Mitochondrial ribosomal proteins / large subunits"""	14483	protein-coding gene	gene with protein product		611837					Standard	NM_016504		Approved		uc002iqq.3	Q9P0M9	OTTHUMG00000162062	ENST00000225969.4:c.378C>G	17.37:g.48445522G>C						MRPL27_uc002iqr.2_3'UTR	p.L126L	NM_016504	NP_057588	Q9P0M9	RM27_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.73e-07)		4	409	-	Breast(11;5.62e-19)		126					B2RE14	Silent	SNP	ENST00000225969.4	37	c.378C>G	CCDS11564.1	.	.	.	.	.	.	.	.	.	.	G	8.350	0.830577	0.16820	.	.	ENSG00000108826	ENST00000508200	T	0.48522	0.81	5.93	5.93	0.95920	.	0.056890	0.64402	D	0.000001	T	0.47248	0.1435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48768	-0.9006	7	0.38643	T	0.18	-20.2307	4.9701	0.14111	0.0802:0.1486:0.617:0.1542	.	.	.	.	V	114	ENSP00000424321:L114V	ENSP00000424321:L114V	L	-	1	2	MRPL27	45800521	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.722000	0.47269	2.797000	0.96272	0.655000	0.94253	CTA		0.547	MRPL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367057.1				22	57	0	0	0	0.014323	0	22	57		
UTP18	51096	broad.mit.edu	37	17	49374347	49374347	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:49374347C>G	ENST00000225298.7	+	13	1725	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	556				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043). {ECO:0000305}.	rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F556L(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ACTCAGACTTCTAAAGAGACT	0.373																																						uc002its.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1666-1668)TTC>TTG		UTP18, small subunit processome component							136.0	129.0	132.0					17																	49374347		1812	4080	5892	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49374347C>G	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1668C>G	17.37:g.49374347C>G	ENSP00000225298:p.Phe556Leu						p.F556L	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		13	1717	+			556	GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).				Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.1668C>G	CCDS42362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666854|3.666854	0.67814|0.67814	.|.	.|.	ENSG00000011260|ENSG00000011260	ENST00000225298|ENST00000506849	T|.	0.46063|.	0.88|.	5.24|5.24	3.27|3.27	0.37495|0.37495	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.48642|0.48642	1.525|1.525	0.46458|0.46458	D|D	0.999056|0.999056	D|.	0.67145|.	0.996|.	P|.	0.58210|.	0.835|.	T|T	0.46884|0.46884	-0.9159|-0.9159	10|6	0.66056|0.21540	D|T	0.02|0.41	.|.	10.9328|10.9328	0.47228|0.47228	0.0:0.8746:0.0:0.1254|0.0:0.8746:0.0:0.1254	.|.	556|.	Q9Y5J1|.	UTP18_HUMAN|.	L|V	556|100	ENSP00000225298:F556L|.	ENSP00000225298:F556L|ENSP00000421399:L100V	F|L	+|+	3|1	2|2	UTP18|UTP18	46729346|46729346	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.788000|0.788000	0.44548|0.44548	1.309000|1.309000	0.33539|0.33539	0.913000|0.913000	0.36797|0.36797	0.650000|0.650000	0.86243|0.86243	TTC|CTA		0.373	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1		NM_016001		16	167	0	0	0	0.003163	0	16	167		
MPO	4353	broad.mit.edu	37	17	56349051	56349051	+	Silent	SNP	G	G	A	rs141229223	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56349051G>A	ENST00000225275.3	-	11	2171	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	MPO_ENST00000340482.3_Silent_p.I697I	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	665					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I665I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ACTGGGTACCGATGATGCAGG	0.647																																						uc002ivu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1993-1995)ATC>ATT		myeloperoxidase	Cefdinir(DB00535)	G		2,4404	4.2+/-10.8	0,2,2201	53.0	46.0	49.0		1995	-10.7	0.4	17	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	MPO	NM_000250.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		665/746	56349051	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349051G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1995C>T	17.37:g.56349051G>A							p.I665I	NM_000250	NP_000241	P05164	PERM_HUMAN			11	2172	-			665					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1995C>T	CCDS11604.1																																																																																				0.647	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1				5	46	0	0	0	0.001984	0	5	46		
MPO	4353	broad.mit.edu	37	17	56350157	56350157	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56350157C>G	ENST00000225275.3	-	10	1920	c.1744G>C	c.(1744-1746)Gac>Cac	p.D582H	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D614H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	582					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D582H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCAGGCAGGTCCAGCCCAATC	0.617																																						uc002ivu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1744-1746)GAC>CAC		myeloperoxidase	Cefdinir(DB00535)						106.0	100.0	102.0					17																	56350157		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350157C>G		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1744G>C	17.37:g.56350157C>G	ENSP00000225275:p.Asp582His						p.D582H	NM_000250	NP_000241	P05164	PERM_HUMAN			10	1921	-			582					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1744G>C	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744948	0.89663	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.79845	-1.31;-1.31	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96740	0.9546	10	0.87932	D	0	-31.2509	17.6479	0.88153	0.0:1.0:0.0:0.0	.	582	P05164	PERM_HUMAN	H	614;582	ENSP00000344419:D614H;ENSP00000225275:D582H	ENSP00000225275:D582H	D	-	1	0	MPO	53705156	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.794000	0.85869	2.391000	0.81399	0.561000	0.74099	GAC		0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1				12	210	0	0	0	0.010729	0	12	210		
C17orf47	284083	broad.mit.edu	37	17	56620137	56620137	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56620137C>G	ENST00000321691.3	-	1	1592	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	471								p.E471Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCAGATCCTCACAGAAAGGG	0.493																																						uc002iwq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1411-1413)GAG>CAG		hypothetical protein LOC284083							196.0	207.0	203.0					17																	56620137		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620137C>G		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1411G>C	17.37:g.56620137C>G	ENSP00000354874:p.Glu471Gln					SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.E471Q	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	1547	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		471					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1411G>C	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496758	0.26861	.	.	ENSG00000181013	ENST00000321691	T	0.56776	0.44	5.76	5.76	0.90799	.	0.092501	0.47093	D	0.000253	T	0.62780	0.2456	L	0.34521	1.04	0.34781	D	0.734724	D	0.89917	1.0	D	0.77557	0.99	T	0.70637	-0.4817	10	0.54805	T	0.06	-11.001	15.4617	0.75363	0.0:1.0:0.0:0.0	.	471	Q8NEP4	CQ047_HUMAN	Q	471	ENSP00000354874:E471Q	ENSP00000354874:E471Q	E	-	1	0	C17orf47	53975136	1.000000	0.71417	0.966000	0.40874	0.017000	0.09413	1.557000	0.36299	2.724000	0.93272	0.561000	0.74099	GAG		0.493	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		NM_001038704		30	462	0	0	0	0.008361	0	30	462		
USP32	84669	broad.mit.edu	37	17	58286164	58286164	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:58286164T>C	ENST00000300896.4	-	23	2818	c.2624A>G	c.(2623-2625)aAt>aGt	p.N875S	USP32_ENST00000592339.1_Missense_Mutation_p.N545S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	875	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N875S(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGATCTATTTCTTCTTAG	0.348																																						uc002iyo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|breast(2)|large_intestine(1)	5						c.(2623-2625)AAT>AGT		ubiquitin specific protease 32							72.0	70.0	71.0					17																	58286164		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58286164T>C	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2624A>G	17.37:g.58286164T>C	ENSP00000300896:p.Asn875Ser					USP32_uc002iyn.1_Missense_Mutation_p.N545S	p.N875S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		23	2910	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		875					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.2624A>G	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.724941	0.89298	.	.	ENSG00000170832	ENST00000300896	T	0.34275	1.37	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.62845	-0.6768	10	0.87932	D	0	.	16.1008	0.81169	0.0:0.0:0.0:1.0	.	875	Q8NFA0	UBP32_HUMAN	S	875	ENSP00000300896:N875S	ENSP00000300896:N875S	N	-	2	0	USP32	55640946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.991000	0.88244	2.206000	0.71126	0.533000	0.62120	AAT		0.348	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		14	115	0	0	0	0.006122	0	14	115		
FBF1	85302	broad.mit.edu	37	17	73922925	73922925	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:73922925T>C	ENST00000586717.1	-	9	740	c.467A>G	c.(466-468)tAt>tGt	p.Y156C	FBF1_ENST00000319129.5_Missense_Mutation_p.Y156C|FBF1_ENST00000389570.4_Missense_Mutation_p.Y156C			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	156					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.Y156C(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCCTTCATCATAGGAGAGAAG	0.512																																						uc002jqc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(466-468)TAT>TGT		Fas (TNFRSF6) binding factor 1							61.0	59.0	59.0					17																	73922925		1964	4144	6108	SO:0001583	missense	85302							g.chr17:73922925T>C	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.467A>G	17.37:g.73922925T>C	ENSP00000465132:p.Tyr156Cys					FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.Y146C|FBF1_uc002jqd.1_Missense_Mutation_p.Y156C	p.Y156C	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN			9	741	-			156					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.467A>G		.	.	.	.	.	.	.	.	.	.	T	11.78	1.740301	0.30865	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.17213	2.29;2.29	5.46	5.46	0.80206	.	.	.	.	.	T	0.17365	0.0417	N	0.22421	0.69	0.21967	N	0.999446	P;P;P	0.51791	0.948;0.915;0.895	B;P;B	0.47470	0.443;0.548;0.443	T	0.09422	-1.0675	9	0.87932	D	0	-10.6333	11.9404	0.52896	0.0:0.0:0.0:1.0	.	170;156;156	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	C	156;156;156;169	ENSP00000374221:Y156C;ENSP00000324292:Y156C	ENSP00000324292:Y156C	Y	-	2	0	FBF1	71434520	0.961000	0.32948	0.518000	0.27811	0.135000	0.20990	3.750000	0.55157	2.081000	0.62600	0.533000	0.62120	TAT		0.512	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2		NM_001080542		8	21	0	0	0	0.004482	0	8	21		
PRPSAP1	5635	broad.mit.edu	37	17	74307742	74307742	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:74307742G>A	ENST00000446526.3	-	10	1484	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Silent_p.L244L	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	318					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.L318L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGACATTGCAGCTTCTGAACC	0.453																																						uc010wta.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1039-1041)CTG>TTG		phosphoribosyl pyrophosphate							144.0	114.0	124.0					17																	74307742		2203	4300	6503	SO:0001819	synonymous_variant	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74307742G>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.1039C>T	17.37:g.74307742G>A						PRPSAP1_uc010wtb.1_Silent_p.L244L	p.L347L	NM_002766	NP_002757	Q14558	KPRA_HUMAN			10	1485	-			318					B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	c.1039C>T	CCDS11743.2																																																																																				0.453	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2		NM_002766		19	102	0	0	0	0.008871	0	19	102		
RNF213	57674	broad.mit.edu	37	17	78343329	78343329	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:78343329C>T	ENST00000582970.1	+	45	12326	c.12183C>T	c.(12181-12183)ttC>ttT	p.F4061F	RNF213_ENST00000508628.2_Silent_p.F4110F|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.F2134F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4061					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F2134F(1)|p.F4110F(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGCCCGCTTCCGGCAGATGT	0.493																																						uc002jyh.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(6400-6402)TTC>TTT		ring finger protein 213							115.0	113.0	114.0					17																	78343329		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78343329C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12183C>T	17.37:g.78343329C>T						uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.F516F	p.F2134F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		20	6625	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.6402C>T	CCDS58606.1																																																																																				0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		62	177	0	0	0	0.01441	0	62	177		
RNF213	57674	broad.mit.edu	37	17	78343399	78343399	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:78343399G>A	ENST00000582970.1	+	45	12396	c.12253G>A	c.(12253-12255)Gag>Aag	p.E4085K	RNF213_ENST00000508628.2_Missense_Mutation_p.E4134K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.E2158K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4085					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2158K(1)|p.E4134K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCTCCGCCTGAGAAGGAAGT	0.517																																						uc002jyh.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(6472-6474)GAG>AAG		ring finger protein 213							102.0	94.0	97.0					17																	78343399		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78343399G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12253G>A	17.37:g.78343399G>A	ENSP00000464087:p.Glu4085Lys					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E540K	p.E2158K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		20	6695	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.6472G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875498	0.33162	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24350	1.86	5.23	-9.59	0.00556	.	1.363700	0.04294	N	0.346024	T	0.23330	0.0564	L	0.43152	1.355	0.09310	N	1	B;B	0.33583	0.418;0.025	B;B	0.30855	0.121;0.022	T	0.30090	-0.9990	10	0.30078	T	0.28	.	22.2726	0.99969	0.074:0.1239:0.802:0.0	.	4134;2158	C9JCP4;Q63HN8	.;RN213_HUMAN	K	4085;4134;2158	ENSP00000338218:E2158K	ENSP00000338218:E2158K	E	+	1	0	RNF213	75957994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	-0.986000	0.03498	-0.971000	0.02607	GAG		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		42	139	0	0	0	0.009718	0	42	139		
NARF	26502	broad.mit.edu	37	17	80439027	80439027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:80439027C>T	ENST00000309794.11	+	7	907	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	NARF_ENST00000412079.2_Nonsense_Mutation_p.Q109*|NARF_ENST00000457415.3_Nonsense_Mutation_p.Q283*|NARF_ENST00000390006.4_Nonsense_Mutation_p.Q178*|NARF_ENST00000345415.7_Nonsense_Mutation_p.Q189*|NARF-IT1_ENST00000584012.1_RNA	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	237						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.Q237*(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGGCTCTTCAGGAAAGCCT	0.577																																						uc002kfg.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(1)	1						c.(709-711)CAG>TAG		nuclear prelamin A recognition factor isoform a							103.0	103.0	103.0					17																	80439027		2203	4300	6503	SO:0001587	stop_gained	26502					lamin filament	lamin binding	g.chr17:80439027C>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.709C>T	17.37:g.80439027C>T	ENSP00000309899:p.Gln237*					NARF_uc002kff.3_Nonsense_Mutation_p.Q178*|NARF_uc010wvo.1_Nonsense_Mutation_p.Q192*|NARF_uc010wvp.1_Nonsense_Mutation_p.Q109*|NARF_uc010dit.2_Nonsense_Mutation_p.Q237*|NARF_uc002kfj.3_Nonsense_Mutation_p.Q189*|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Nonsense_Mutation_p.Q283*|NARF_uc002kfk.2_RNA	p.Q237*	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	849	+	Breast(20;0.00106)|all_neural(118;0.0804)		237					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Nonsense_Mutation	SNP	ENST00000309794.11	37	c.709C>T	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	16.41	3.115826	0.56505	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	.	.	.	5.36	1.58	0.23477	.	0.231611	0.41294	D	0.000917	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8734	10.1994	0.43073	0.1577:0.5945:0.2478:0.0	.	.	.	.	X	178;237;237;189;109;192	.	ENSP00000309899:Q237X	Q	+	1	0	NARF	78032316	0.889000	0.30405	0.019000	0.16419	0.056000	0.15407	0.926000	0.28804	0.520000	0.28426	0.491000	0.48974	CAG		0.577	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2		NM_031968		13	182	0	0	0	0.013537	0	13	182		
LAMA1	284217	broad.mit.edu	37	18	7038844	7038844	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:7038844C>T	ENST00000389658.3	-	11	1621	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	510	Laminin EGF-like 5; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D510N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGCAGACATCAGAAACGCCA	0.567																																						uc002knm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1528-1530)GAT>AAT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						108.0	123.0	118.0					18																	7038844		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7038844C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1528G>A	18.37:g.7038844C>T	ENSP00000374309:p.Asp510Asn					LAMA1_uc010wzj.1_5'UTR	p.D510N	NM_005559	NP_005550	P25391	LAMA1_HUMAN			11	1622	-		Colorectal(10;0.172)	510			Laminin EGF-like 5; first part.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1528G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	9.914	1.210209	0.22289	.	.	ENSG00000101680	ENST00000389658	T	0.17528	2.27	4.88	3.09	0.35607	.	0.313977	0.32802	N	0.005632	T	0.14485	0.0350	L	0.35249	1.045	0.09310	N	0.999999	P	0.44627	0.839	P	0.44394	0.448	T	0.11446	-1.0587	10	0.22109	T	0.4	.	10.9035	0.47067	0.0:0.8485:0.0:0.1515	.	510	P25391	LAMA1_HUMAN	N	510	ENSP00000374309:D510N	ENSP00000374309:D510N	D	-	1	0	LAMA1	7028844	0.524000	0.26282	0.059000	0.19551	0.570000	0.35934	1.933000	0.40153	0.767000	0.33267	0.655000	0.94253	GAT		0.567	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		15	179	0	0	0	0.003163	0	15	179		
CEP76	79959	broad.mit.edu	37	18	12702511	12702511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:12702511G>A	ENST00000262127.2	-	1	262	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	CEP76_ENST00000423709.2_Nonsense_Mutation_p.Q13*|CEP76_ENST00000586887.1_5'UTR|PSMG2_ENST00000317615.6_5'UTR|PSMG2_ENST00000590217.1_5'Flank|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	13					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.Q13*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGATGAGCTGCTTCAGCTCG	0.706																																						uc002kri.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(37-39)CAG>TAG		centrosomal protein 76kDa							35.0	32.0	33.0					18																	12702511		2203	4299	6502	SO:0001587	stop_gained	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12702511G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.37C>T	18.37:g.12702511G>A	ENSP00000262127:p.Gln13*					PSMG2_uc002krg.2_Intron|PSMG2_uc002krj.1_5'Flank|PSMG2_uc002krk.2_5'Flank|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Nonsense_Mutation_p.Q13*|CEP76_uc010xaa.1_5'Flank|CEP76_uc010xab.1_Nonsense_Mutation_p.Q13*	p.Q13*	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			1	193	-			13					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Nonsense_Mutation	SNP	ENST00000262127.2	37	c.37C>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	g	40	8.088385	0.98648	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-18.594	17.65	0.88161	0.0:0.0:1.0:0.0	.	.	.	.	X	13	.	ENSP00000262127:Q13X	Q	-	1	0	CEP76	12692511	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.452000	0.66638	2.394000	0.81467	0.450000	0.29827	CAG		0.706	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1		NM_024899		7	23	0	0	0	0.001984	0	7	23		
ELP2	55250	broad.mit.edu	37	18	33738801	33738801	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:33738801G>T	ENST00000358232.6	+	14	1531	c.1468G>T	c.(1468-1470)Gat>Tat	p.D490Y	ELP2_ENST00000442325.2_Missense_Mutation_p.D555Y|ELP2_ENST00000542824.1_Missense_Mutation_p.D420Y|ELP2_ENST00000351393.6_Missense_Mutation_p.D464Y|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.D485Y|ELP2_ENST00000423854.2_Missense_Mutation_p.D420Y	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	490					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.D490Y(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATTCTAGCAAGATAGTGATCT	0.308																																						uc002kzk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|skin(1)	4						c.(1468-1470)GAT>TAT		elongator protein 2							56.0	57.0	57.0					18																	33738801		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33738801G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1468G>T	18.37:g.33738801G>T	ENSP00000350967:p.Asp490Tyr					ELP2_uc010xcg.1_Missense_Mutation_p.D555Y|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.D464Y|ELP2_uc010xch.1_Missense_Mutation_p.D485Y|ELP2_uc002kzn.1_Missense_Mutation_p.D420Y|ELP2_uc002kzo.1_Missense_Mutation_p.D420Y	p.D490Y	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			14	1478	+			490					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.1468G>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.432395	0.01108	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.60171	0.21;0.36;0.68;0.87;0.43;0.34	5.51	4.62	0.57501	WD40 repeat-like-containing domain (1);	0.603906	0.18282	N	0.145990	T	0.57403	0.2051	M	0.62088	1.915	0.44762	D	0.997763	B;B;B;B;B;B	0.20052	0.033;0.033;0.005;0.041;0.01;0.005	B;B;B;B;B;B	0.22152	0.036;0.036;0.007;0.038;0.033;0.007	T	0.58451	-0.7634	10	0.72032	D	0.01	-1.7578	14.3237	0.66505	0.0:0.1497:0.8503:0.0	.	485;555;420;420;464;490	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	Y	490;464;555;420;485;420	ENSP00000350967:D490Y;ENSP00000257191:D464Y;ENSP00000414851:D555Y;ENSP00000391202:D420Y;ENSP00000316051:D485Y;ENSP00000443800:D420Y	ENSP00000316051:D485Y	D	+	1	0	ELP2	31992799	0.632000	0.27172	0.900000	0.35374	0.490000	0.33462	1.346000	0.33964	1.431000	0.47355	0.585000	0.79938	GAT		0.308	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255		20	75	1	0	1.28384e-07	0.012319	1.37489e-07	20	75		
EPG5	57724	broad.mit.edu	37	18	43495477	43495477	+	Splice_Site	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:43495477T>A	ENST00000282041.5	-	20	3726	c.3692A>T	c.(3691-3693)cAg>cTg	p.Q1231L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1231					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q1231L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTTTCCTACCTGAGTGGGCGT	0.428																																						uc002lbm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3691-3693)CAG>CTG		hypothetical protein LOC57724							85.0	88.0	87.0					18																	43495477		2076	4211	6287	SO:0001630	splice_region_variant	57724				autophagy			g.chr18:43495477T>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3693+1A>T	18.37:g.43495477T>A						KIAA1632_uc002lbo.1_Missense_Mutation_p.Q1231L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q106L	p.Q1231L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			20	3792	-			1231					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3692A>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958255	0.34565	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10382	2.88	5.51	5.51	0.81932	.	0.563205	0.16343	N	0.218587	T	0.25269	0.0614	L	0.53249	1.67	0.51482	D	0.999929	D;D	0.60575	0.988;0.988	P;P	0.58721	0.844;0.844	T	0.00349	-1.1798	10	0.42905	T	0.14	-14.1202	15.6294	0.76893	0.0:0.0:0.0:1.0	.	1231;1231	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	L	1231;106	ENSP00000282041:Q1231L	ENSP00000282041:Q1231L	Q	-	2	0	EPG5	41749475	1.000000	0.71417	0.998000	0.56505	0.210000	0.24377	6.651000	0.74372	2.100000	0.63781	0.528000	0.53228	CAG		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964	Missense_Mutation	26	84	0	0	0	0.00333	0	26	84		
TCEB3B	51224	broad.mit.edu	37	18	44559494	44559494	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:44559494C>T	ENST00000332567.4	-	1	2494	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	714					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L714L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTGCTGCTCAGGCAGGGGT	0.647																																						uc002lcr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2140-2142)CTG>CTA		elongin A2							39.0	44.0	42.0					18																	44559494		2202	4299	6501	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559494C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2142G>A	18.37:g.44559494C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.L714L	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2495	-			714					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.2142G>A	CCDS11932.1																																																																																				0.647	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1		NM_016427		20	55	0	0	0	0.014323	0	20	55		
KATNAL2	83473	broad.mit.edu	37	18	44589673	44589673	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:44589673C>T	ENST00000245121.5	+	7	645	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	KATNAL2_ENST00000356157.7_Silent_p.L223L|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.L151L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCTGAAACCTCTGAGTGCATT	0.468																																						uc002lco.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(451-453)CTG>TTG		katanin p60 subunit A-like 2							91.0	90.0	90.0					18																	44589673		2203	4300	6503	SO:0001819	synonymous_variant	83473					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr18:44589673C>T	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.451C>T	18.37:g.44589673C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.L111L	p.L151L	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN			7	645	+			223						Silent	SNP	ENST00000245121.5	37	c.451C>T	CCDS32828.1																																																																																				0.468	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2		NM_031303		4	61	0	0	0	0.009096	0	4	61		
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:50592482G>A	ENST00000442544.2	+	7	1823	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.E58K|DCC_ENST00000412726.1_Missense_Mutation_p.E251K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	403	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.E403K(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTGTGGCTGAAAATGAGGC	0.438																																						uc002lfe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1207-1209)GAA>AAA		netrin receptor DCC precursor							168.0	157.0	161.0					18																	50592482		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592482G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1207G>A	18.37:g.50592482G>A	ENSP00000389140:p.Glu403Lys					DCC_uc010xdr.1_Missense_Mutation_p.E251K|DCC_uc010dpf.1_Missense_Mutation_p.E58K	p.E403K	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	7	1794	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	403			Extracellular (Potential).|Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1207G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496433	0.64186	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.66460	-0.21;-0.21	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71290	0.3322	L	0.41573	1.285	0.58432	D	0.999995	P;P;P	0.50943	0.938;0.938;0.94	P;P;P	0.54401	0.628;0.72;0.751	T	0.73225	-0.4050	10	0.56958	D	0.05	.	17.7559	0.88449	0.0:0.0:1.0:0.0	.	251;251;403	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	K	403;336;251	ENSP00000389140:E403K;ENSP00000397322:E251K	ENSP00000304146:E336K	E	+	1	0	DCC	48846480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.149000	0.94659	2.497000	0.84241	0.650000	0.86243	GAA		0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3		NM_005215		19	150	0	0	0	0.007413	0	19	150		
ZNF236	7776	broad.mit.edu	37	18	74587572	74587572	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:74587572C>T	ENST00000253159.8	+	6	984	c.786C>T	c.(784-786)ttC>ttT	p.F262F	ZNF236_ENST00000320610.9_Silent_p.F264F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	262					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F262F(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTGCCGCCTTCTCTCAGAAAG	0.532											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lmi.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)	4						c.(784-786)TTC>TTT		zinc finger protein 236							118.0	121.0	120.0					18																	74587572		2027	4178	6205	SO:0001819	synonymous_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74587572C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.786C>T	18.37:g.74587572C>T			OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.F262F	p.F262F	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	6	984	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	262			C2H2-type 8.		B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	c.786C>T	CCDS42447.1																																																																																				0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				10	137	0	0	0	0.006214	0	10	137		
SLC39A3	29985	broad.mit.edu	37	19	2737188	2737188	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:2737188G>C	ENST00000269740.4	-	2	397	c.68C>G	c.(67-69)tCc>tGc	p.S23C	SLC39A3_ENST00000545664.1_Missense_Mutation_p.S23C|SLC39A3_ENST00000455372.2_Missense_Mutation_p.S23C|SLC39A3_ENST00000590875.1_5'Flank|AC006538.4_ENST00000586572.1_Missense_Mutation_p.S23C	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	23					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.S23F(1)|p.S23C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGAGCAGGGAGCCGAGCAG	0.547																																						uc002lwg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(67-69)TCC>TGC		solute carrier family 39 (zinc transporter),							111.0	101.0	105.0					19																	2737188		2203	4300	6503	SO:0001583	missense	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2737188G>C	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.68C>G	19.37:g.2737188G>C	ENSP00000269740:p.Ser23Cys					SLC39A3_uc010xgy.1_Missense_Mutation_p.S23C|SLC39A3_uc002lwh.2_Missense_Mutation_p.S23C	p.S23C	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	322	-		Hepatocellular(1079;0.137)	23			Helical; (Potential).		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	c.68C>G	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439121	0.63067	.	.	ENSG00000141873	ENST00000545664;ENST00000269740;ENST00000455372	T;T;T	0.47528	0.84;0.84;0.84	4.89	4.89	0.63831	.	0.207216	0.43110	D	0.000602	T	0.58018	0.2093	L	0.44542	1.39	0.42037	D	0.991059	D;B;D	0.76494	0.999;0.184;0.997	P;B;P	0.60236	0.871;0.083;0.87	T	0.60622	-0.7227	10	0.52906	T	0.07	-15.7928	16.6196	0.84926	0.0:0.0:1.0:0.0	.	23;23;23	F5H385;Q9BRY0-2;Q9BRY0	.;.;S39A3_HUMAN	C	23	ENSP00000445345:S23C;ENSP00000269740:S23C;ENSP00000393715:S23C	ENSP00000269740:S23C	S	-	2	0	SLC39A3	2688188	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.116000	0.64661	2.252000	0.74401	0.561000	0.74099	TCC		0.547	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2				3	27	0	0	0	0.004672	0	3	27		
MATK	4145	broad.mit.edu	37	19	3781668	3781668	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:3781668C>T	ENST00000310132.6	-	8	1077	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	MATK_ENST00000585778.1_Missense_Mutation_p.G227S|MATK_ENST00000395040.2_Missense_Mutation_p.G186S|MATK_ENST00000395045.2_Missense_Mutation_p.G228S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	227					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G228S(1)|p.G227S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTAACCAGCCCGCTGTGGAG	0.557																																						uc002lyt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(679-681)GGC>AGC		megakaryocyte-associated tyrosine kinase isoform							120.0	101.0	107.0					19																	3781668		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3781668C>T	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.679G>A	19.37:g.3781668C>T	ENSP00000308734:p.Gly227Ser					MATK_uc002lyv.2_Missense_Mutation_p.G228S|MATK_uc002lyu.2_Missense_Mutation_p.G186S|MATK_uc010dtq.2_Missense_Mutation_p.G227S	p.G227S	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1079	-		Hepatocellular(1079;0.137)	227					B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.679G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118934	0.77323	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.73258	-0.72;-0.73;-0.71	4.52	4.52	0.55395	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.84305	0.0507	10	0.59425	D	0.04	-35.0245	16.1711	0.81817	0.0:1.0:0.0:0.0	.	227;228;227	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	S	228;227;186	ENSP00000378485:G228S;ENSP00000308734:G227S;ENSP00000378481:G186S	ENSP00000308734:G227S	G	-	1	0	MATK	3732668	1.000000	0.71417	0.998000	0.56505	0.448000	0.32197	7.308000	0.78929	2.237000	0.73441	0.462000	0.41574	GGC		0.557	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1		NM_139355		3	41	0	0	0	0.009096	0	3	41		
INSR	3643	broad.mit.edu	37	19	7174599	7174599	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:7174599C>T	ENST00000302850.5	-	4	1260	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	INSR_ENST00000341500.5_Missense_Mutation_p.G373E	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	373					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G373E(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTCACTGCCTCCTCGAATGTT	0.602																																						uc002mgd.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(1117-1119)GGA>GAA		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						129.0	100.0	110.0					19																	7174599		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7174599C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1118G>A	19.37:g.7174599C>T	ENSP00000303830:p.Gly373Glu					INSR_uc002mge.1_Missense_Mutation_p.G373E|INSR_uc002mgf.2_Missense_Mutation_p.G373E	p.G373E	NM_000208	NP_000199	P06213	INSR_HUMAN			4	1227	-			373					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.1118G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363831	0.82353	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82081	-1.57;-1.57	4.66	4.66	0.58398	EGF receptor, L domain (1);	0.000000	0.46442	D	0.000284	D	0.88551	0.6467	M	0.73962	2.25	0.80722	D	1	P;P;P	0.43287	0.585;0.764;0.802	P;P;B	0.55785	0.784;0.53;0.361	D	0.87374	0.2352	10	0.33940	T	0.23	.	15.4721	0.75446	0.0:1.0:0.0:0.0	.	364;373;373	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	E	373	ENSP00000303830:G373E;ENSP00000342838:G373E	ENSP00000303830:G373E	G	-	2	0	INSR	7125599	1.000000	0.71417	0.989000	0.46669	0.837000	0.47467	5.620000	0.67736	2.323000	0.78572	0.456000	0.33151	GGA		0.602	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1				9	49	0	0	0	0.004482	0	9	49		
ZNF441	126068	broad.mit.edu	37	19	11891441	11891441	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:11891441C>G	ENST00000357901.4	+	4	904	c.802C>G	c.(802-804)Caa>Gaa	p.Q268E	ZNF441_ENST00000454339.2_Missense_Mutation_p.Q201E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q201E(1)|p.Q268E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTTACACTCAACTATATGA	0.383																																						uc010dyj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(802-804)CAA>GAA		zinc finger protein 441							71.0	71.0	71.0					19																	11891441		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891441C>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.802C>G	19.37:g.11891441C>G	ENSP00000350576:p.Gln268Glu					ZNF441_uc002msn.3_Missense_Mutation_p.Q224E	p.Q268E	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	996	+			268			C2H2-type 4; degenerate.			Missense_Mutation	SNP	ENST00000357901.4	37	c.802C>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	c	3.530	-0.095918	0.07010	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.15256	2.44;2.44	1.0	-0.172	0.13327	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	L	0.53249	1.67	0.09310	N	1	B	0.27765	0.188	B	0.15484	0.013	T	0.38950	-0.9637	9	0.02654	T	1	.	2.633	0.04950	0.0:0.348:0.2632:0.3888	.	268	Q8N8Z8	ZN441_HUMAN	E	224;268;201	ENSP00000350576:Q268E;ENSP00000403738:Q201E	ENSP00000350576:Q268E	Q	+	1	0	ZNF441	11752441	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-1.108000	0.03313	0.007000	0.14760	0.298000	0.19748	CAA		0.383	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3		NM_152355		4	117	0	0	0	0.009096	0	4	117		
MYO9B	4650	broad.mit.edu	37	19	17305659	17305659	+	Silent	SNP	C	C	G	rs377572454		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:17305659C>G	ENST00000594824.1	+	22	3570	c.3423C>G	c.(3421-3423)gtC>gtG	p.V1141V	MYO9B_ENST00000595618.1_Silent_p.V1141V|MYO9B_ENST00000397274.2_Silent_p.V1141V			Q13459	MYO9B_HUMAN	myosin IXB	1141	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.V1141V(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACGAGAAAGTCCCCAGCAGCC	0.607																																						uc010eak.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)	1						c.(3421-3423)GTC>GTG		myosin IXB isoform 1		C	,	1,4285		0,1,2142	40.0	49.0	46.0		3423,3423	-4.4	0.0	19		46	0,8548		0,0,4274	no	coding-synonymous,coding-synonymous	MYO9B	NM_001130065.1,NM_004145.3	,	0,1,6416	GG,GC,CC		0.0,0.0233,0.0078	,	1141/2023,1141/2158	17305659	1,12833	2143	4274	6417	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17305659C>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3423C>G	19.37:g.17305659C>G						MYO9B_uc002nfi.2_Silent_p.V1141V|MYO9B_uc002nfj.1_Silent_p.V1141V	p.V1141V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			22	3575	+			1141			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.3423C>G																																																																																					0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				4	26	0	0	0	0.009096	0	4	26		
ANO8	57719	broad.mit.edu	37	19	17440962	17440962	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:17440962C>T	ENST00000159087.4	-	10	1403	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	415	Leu-rich.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.K415K(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGGCTAGCTTCTTGTAGCCCT	0.627																																						uc002ngf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1243-1245)AAG>AAA		anoctamin 8							65.0	52.0	56.0					19																	17440962		2203	4300	6503	SO:0001819	synonymous_variant	57719					chloride channel complex	chloride channel activity	g.chr19:17440962C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1245G>A	19.37:g.17440962C>T						ANO8_uc010eap.2_RNA	p.K415K	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			10	1404	-			415			Helical; (Potential).|Leu-rich.		A6NIJ0	Silent	SNP	ENST00000159087.4	37	c.1245G>A	CCDS32949.1																																																																																				0.627	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1		XM_050644		5	54	0	0	0	0.000602	0	5	54		
ZNF682	91120	broad.mit.edu	37	19	20117297	20117297	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:20117297C>T	ENST00000397165.2	-	4	1174	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	ZNF682_ENST00000358523.5_Silent_p.E306E|ZNF682_ENST00000397162.1_Silent_p.E306E|ZNF682_ENST00000595736.1_Silent_p.E262E|ZNF682_ENST00000597972.1_Silent_p.E344E|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E338E(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATAGGGTTTCTCTCCCGTAT	0.383																																						uc002noq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1012-1014)GAG>GAA		zinc finger protein 682 isoform 1							60.0	64.0	63.0					19																	20117297		2139	4259	6398	SO:0001819	synonymous_variant	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117297C>T	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1014G>A	19.37:g.20117297C>T						ZNF682_uc002noo.2_Silent_p.E306E|ZNF682_uc002nop.2_Silent_p.E306E|ZNF682_uc010eck.2_Silent_p.E262E	p.E338E	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	1137	-			338					B3KU64|E9PFJ5|Q96JV9	Silent	SNP	ENST00000397165.2	37	c.1014G>A	CCDS42533.1																																																																																				0.383	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1		NM_033196		23	114	0	0	0	0.003954	0	23	114		
SLC7A9	11136	broad.mit.edu	37	19	33359415	33359415	+	Missense_Mutation	SNP	C	C	T	rs200753692		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:33359415C>T	ENST00000023064.4	-	2	217	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	SLC7A9_ENST00000590341.1_Missense_Mutation_p.R9Q|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R9Q	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	9					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.R9Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATCCTCTCTCCGCTTTCTCAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17021	0.0		0.001	False		,,,				2504	0.0				GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(25-27)CGG>CAG		solute carrier family 7, member 9	L-Cystine(DB00138)						188.0	127.0	147.0					19																	33359415		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33359415C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.26G>A	19.37:g.33359415C>T	ENSP00000023064:p.Arg9Gln					SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.R9Q|SLC7A9_uc002ntw.3_5'UTR	p.R9Q	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			2	143	-	Esophageal squamous(110;0.137)		9			Cytoplasmic (Potential).		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.26G>A	CCDS12425.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.945	0.743612	0.15642	.	.	ENSG00000021488	ENST00000023064	D	0.89617	-2.54	5.29	4.23	0.50019	.	0.910972	0.09590	N	0.781612	T	0.81088	0.4750	N	0.19112	0.55	0.32224	N	0.574885	B	0.23735	0.09	B	0.14023	0.01	T	0.72127	-0.4384	10	0.13853	T	0.58	.	14.1026	0.65068	0.1519:0.8481:0.0:0.0	.	9	P82251	BAT1_HUMAN	Q	9	ENSP00000023064:R9Q	ENSP00000023064:R9Q	R	-	2	0	SLC7A9	38051255	0.985000	0.35326	0.050000	0.19076	0.360000	0.29518	2.356000	0.44116	1.326000	0.45319	0.462000	0.41574	CGG		0.557	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1				20	148	0	0	0	0.014323	0	20	148		
ZNF793	390927	broad.mit.edu	37	19	38028585	38028585	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:38028585G>C	ENST00000587143.1	+	6	1260	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Missense_Mutation_p.R342T|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.R342T			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R342T(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCGTTGCAGAGAATGTGGA	0.453																																					Melanoma(44;400 1431 1499 19093)	uc010efm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1024-1026)AGA>ACA		zinc finger protein 793							90.0	100.0	96.0					19																	38028585		2168	4286	6454	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028585G>C	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.1025G>C	19.37:g.38028585G>C	ENSP00000468605:p.Arg342Thr					ZNF793_uc010xts.1_Missense_Mutation_p.R342T|ZNF793_uc010efo.2_Intron	p.R342T	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1467	+			342			C2H2-type 5.		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.1025G>C	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672094	0.47781	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.07688	3.17;3.17	4.13	-0.408	0.12381	.	0.181464	0.27023	N	0.021306	T	0.02767	0.0083	N	0.04275	-0.24	0.09310	N	1	B	0.28820	0.224	B	0.30251	0.113	T	0.44817	-0.9303	10	0.15952	T	0.53	.	4.3122	0.10976	0.4859:0.1776:0.3365:0.0	.	342	E9PGN4	.	T	342;342;342;341	ENSP00000444355:R342T;ENSP00000396402:R342T	ENSP00000318811:R341T	R	+	2	0	ZNF793	42720425	0.000000	0.05858	0.917000	0.36280	0.922000	0.55478	-0.410000	0.07151	0.134000	0.18681	0.650000	0.86243	AGA		0.453	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1		NM_001013659		4	70	0	0	0	0.000602	0	4	70		
SAMD4B	55095	broad.mit.edu	37	19	39868169	39868169	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:39868169G>A	ENST00000314471.6	+	10	2184	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	SAMD4B_ENST00000598913.1_Silent_p.L383L|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L383L(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGCAGGAGCTGCAGCAGATCA	0.627																																						uc002olb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1147-1149)CTG>CTA		sterile alpha motif domain containing 4B							93.0	79.0	83.0					19																	39868169		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39868169G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1149G>A	19.37:g.39868169G>A						SAMD4B_uc002ola.2_Silent_p.L383L	p.L383L	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2184	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		383					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.1149G>A	CCDS33020.1																																																																																				0.627	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		5	75	0	0	0	0.001168	0	5	75		
PSG5	5673	broad.mit.edu	37	19	43680125	43680125	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:43680125G>A	ENST00000366175.3	-	3	736	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG5_ENST00000407356.1_Silent_p.L202L|PSG5_ENST00000404580.1_Silent_p.L202L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.L202L|PSG5_ENST00000599812.1_Silent_p.L295L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	202	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L202L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGGGTAGAATGAGGATCCTGT	0.507																																						uc002ovu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)	3						c.(604-606)CTC>CTT		pregnancy specific beta-1-glycoprotein 5							103.0	110.0	107.0					19																	43680125		2201	4292	6493	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43680125G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.606C>T	19.37:g.43680125G>A						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.L202L|PSG5_uc002ovv.2_Silent_p.L295L|PSG5_uc002ovw.2_Intron	p.L202L	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	737	-		Prostate(69;0.00899)	202			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.606C>T	CCDS12617.1																																																																																				0.507	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1		NM_002781		6	277	0	0	0	0.00308	0	6	277		
PLAUR	5329	broad.mit.edu	37	19	44169603	44169603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:44169603C>T	ENST00000340093.3	-	3	404	c.175G>A	c.(175-177)Gag>Aag	p.E59K	AC006953.1_ENST00000580312.1_RNA|PLAUR_ENST00000601723.1_Missense_Mutation_p.E59K|PLAUR_ENST00000339082.3_Missense_Mutation_p.E59K|PLAUR_ENST00000221264.4_Missense_Mutation_p.E59K	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	59	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.E59K(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGCTCCAGCTCTTCTCCTTCT	0.557																																						uc002oxf.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(175-177)GAG>AAG		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						167.0	132.0	144.0					19																	44169603		2203	4300	6503	SO:0001583	missense	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44169603C>T		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.175G>A	19.37:g.44169603C>T	ENSP00000339328:p.Glu59Lys					PLAUR_uc002oxd.1_Missense_Mutation_p.E59K|PLAUR_uc002oxe.1_Missense_Mutation_p.E54K|PLAUR_uc002oxg.1_Missense_Mutation_p.E59K	p.E59K	NM_002659	NP_002650	Q03405	UPAR_HUMAN			3	405	-		Prostate(69;0.0153)	59			UPAR/Ly6 1.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	c.175G>A	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	c	9.656	1.142970	0.21205	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.69040	-0.37;-0.37;-0.37	3.84	3.84	0.44239	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.921031	0.08924	N	0.873926	T	0.76471	0.3992	L	0.47190	1.495	0.25409	N	0.988378	D;D;D;B	0.76494	0.999;0.999;0.999;0.006	D;D;D;B	0.80764	0.994;0.991;0.991;0.004	T	0.63193	-0.6692	10	0.56958	D	0.05	-6.894	11.2016	0.48745	0.0:1.0:0.0:0.0	.	59;59;59;59	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	K	59	ENSP00000342049:E59K;ENSP00000339328:E59K;ENSP00000221264:E59K	ENSP00000221264:E59K	E	-	1	0	PLAUR	48861443	0.169000	0.23002	0.353000	0.25747	0.260000	0.26232	0.231000	0.17872	2.007000	0.58848	0.282000	0.19409	GAG		0.557	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659		6	89	0	0	0	0.001168	0	6	89		
ZNF285	26974	broad.mit.edu	37	19	44896514	44896514	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:44896514G>A	ENST00000330997.4	-	3	196	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.L44L|CTC-512J12.4_ENST00000588655.1_RNA|ZNF285_ENST00000591679.1_Silent_p.L51L	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	44	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)	p.L44L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCACTAACATGAGGTTCCTGA	0.428																																						uc002ozd.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(130-132)CTC>CTT		zinc finger protein 285							176.0	154.0	162.0					19																	44896514		2203	4300	6503	SO:0001819	synonymous_variant	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44896514G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.132C>T	19.37:g.44896514G>A						ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.L51L	p.L44L	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			3	219	-			44			KRAB.		Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	ENST00000330997.4	37	c.132C>T	CCDS12638.1																																																																																				0.428	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1		NM_152354		16	192	0	0	0	0.00499	0	16	192		
CCDC9	26093	broad.mit.edu	37	19	47761897	47761897	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:47761897G>C	ENST00000221922.6	+	3	307	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	29							poly(A) RNA binding (GO:0044822)	p.E29Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGGAAGAATGAGGCCCTCAT	0.582																																						uc010xym.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(85-87)GAG>CAG		coiled-coil domain containing 9							86.0	84.0	85.0					19																	47761897		2203	4300	6503	SO:0001583	missense	26093							g.chr19:47761897G>C	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.85G>C	19.37:g.47761897G>C	ENSP00000221922:p.Glu29Gln						p.E29Q	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	3	292	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	29						Missense_Mutation	SNP	ENST00000221922.6	37	c.85G>C	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.967089	0.74131	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.30981	1.51	4.85	4.85	0.62838	.	0.057820	0.64402	D	0.000003	T	0.30324	0.0761	M	0.70275	2.135	0.47153	D	0.999332	P	0.41673	0.759	B	0.33454	0.164	T	0.20472	-1.0274	10	0.44086	T	0.13	-19.1774	13.1947	0.59732	0.0:0.1616:0.8384:0.0	.	29	Q9Y3X0	CCDC9_HUMAN	Q	29	ENSP00000221922:E29Q	ENSP00000221922:E29Q	E	+	1	0	CCDC9	52453737	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.677000	0.74503	2.254000	0.74563	0.462000	0.41574	GAG		0.582	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1		NM_015603		3	74	0	0	0	0.009096	0	3	74		
VN1R4	317703	broad.mit.edu	37	19	53770061	53770061	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:53770061C>G	ENST00000311170.4	-	1	911	c.858G>C	c.(856-858)atG>atC	p.M286I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	286					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.M286I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGTCACAGCTCATGAGAACAA	0.393										HNSCC(26;0.072)																												uc010ydu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(856-858)ATG>ATC		vomeronasal 1 receptor 4							79.0	74.0	75.0					19																	53770061		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770061C>G	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.858G>C	19.37:g.53770061C>G	ENSP00000310856:p.Met286Ile	HNSCC(26;0.072)					p.M286I	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	858	-			286			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.858G>C	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068433	0.20067	.	.	ENSG00000228567	ENST00000311170	T	0.04862	3.54	2.43	2.43	0.29744	.	0.170706	0.28104	N	0.016588	T	0.03739	0.0106	N	0.16266	0.395	0.09310	N	1	B	0.28760	0.221	B	0.30105	0.111	T	0.38045	-0.9679	10	0.37606	T	0.19	.	5.3084	0.15817	0.0:0.8382:0.0:0.1618	.	286	Q7Z5H5	VN1R4_HUMAN	I	286	ENSP00000310856:M286I	ENSP00000310856:M286I	M	-	3	0	VN1R4	58461873	0.061000	0.20836	0.045000	0.18777	0.152000	0.21847	0.512000	0.22755	1.705000	0.51264	0.551000	0.68910	ATG		0.393	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1		NM_173857		5	82	0	0	0	0.000602	0	5	82		
TMC4	147798	broad.mit.edu	37	19	54667458	54667458	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:54667458G>A	ENST00000376591.4	-	8	1424	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.L425L|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	431					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L425L(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGAACCTGAGCAGGATAA	0.567											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc010erf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(1291-1293)CTC>CTT		transmembrane channel-like 4 isoform 1							93.0	86.0	89.0					19																	54667458		2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54667458G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1293C>T	19.37:g.54667458G>A			OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	TMC4_uc002qdn.2_Nonsense_Mutation_p.Q122*|TMC4_uc002qdo.2_Silent_p.L425L	p.L431L	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			8	1425	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		431			Helical; (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.1293C>T	CCDS46174.1																																																																																				0.567	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2				6	74	0	0	0	0.001168	0	6	74		
LILRB1	10859	broad.mit.edu	37	19	55147018	55147018	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:55147018G>A	ENST00000396331.1	+	14	1965	c.1608G>A	c.(1606-1608)gtG>gtA	p.V536V	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.V520V|LILRB1_ENST00000448689.1_Silent_p.*511*|LILRB1_ENST00000396317.1_Silent_p.V520V|LILRB1_ENST00000427581.2_Silent_p.V586V|LILRB1_ENST00000324602.7_Silent_p.V537V|LILRB1_ENST00000396315.1_Silent_p.V537V|LILRB1_ENST00000396327.3_Silent_p.V537V|LILRB1_ENST00000396332.4_Silent_p.V536V|LILRB1_ENST00000434867.2_Silent_p.V536V|LILRB1_ENST00000396321.2_Silent_p.V536V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	536					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.V536V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATGCTGCCGTGAAGCACACAC	0.627										HNSCC(37;0.09)																												uc002qgj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1606-1608)GTG>GTA		leukocyte immunoglobulin-like receptor,							111.0	115.0	114.0					19																	55147018		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147018G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1608G>A	19.37:g.55147018G>A		HNSCC(37;0.09)				LILRB1_uc010erp.1_Silent_p.V151V|LILRB1_uc002qgl.2_Silent_p.V536V|LILRB1_uc002qgk.2_Silent_p.V537V|LILRB1_uc002qgm.2_Silent_p.V537V|LILRB1_uc010erq.2_Silent_p.V520V|LILRB1_uc010err.2_RNA	p.V536V	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	14	1948	+			536			Cytoplasmic (Potential).|ITIM motif 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1608G>A	CCDS42617.1																																																																																				0.627	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4				5	137	0	0	0	0.00308	0	5	137		
LPIN1	23175	broad.mit.edu	37	2	11911647	11911647	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:11911647G>A	ENST00000256720.2	+	4	531	c.438G>A	c.(436-438)ccG>ccA	p.P146P	LPIN1_ENST00000396099.1_Silent_p.P152P|LPIN1_ENST00000449576.2_Silent_p.P195P|LPIN1_ENST00000425416.2_Silent_p.P152P|LPIN1_ENST00000396098.1_Silent_p.P152P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	146					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)	p.P146P(1)		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)		GCGAGACGCCGTCAAGCAGCT	0.537																																						uc010yjn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(436-438)CCG>CCA		lipin 1							55.0	52.0	53.0					2																	11911647		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.chr2:11911647G>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.438G>A	2.37:g.11911647G>A						LPIN1_uc010yjm.1_Silent_p.P195P|LPIN1_uc002rbt.2_Silent_p.P146P|LPIN1_uc002rbs.2_Silent_p.P146P	p.P146P	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	5	712	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		146					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.438G>A	CCDS1682.1																																																																																				0.537	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693		14	23	0	0	0	0.004007	0	14	23		
PUM2	23369	broad.mit.edu	37	2	20478508	20478508	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:20478508G>C	ENST00000361078.2	-	12	1815	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	PUM2_ENST00000338086.5_Missense_Mutation_p.S598C|PUM2_ENST00000403432.1_Missense_Mutation_p.S598C|PUM2_ENST00000319801.5_Intron|PUM2_ENST00000536417.1_Missense_Mutation_p.S542C			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	598	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.S598C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACTAGATCTTTTGTA	0.438																																						uc002rds.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1792-1794)TCT>TGT		pumilio homolog 2							141.0	143.0	143.0					2																	20478508		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20478508G>C	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1793C>G	2.37:g.20478508G>C	ENSP00000354370:p.Ser598Cys					PUM2_uc002rdq.1_Translation_Start_Site|PUM2_uc002rdt.1_Missense_Mutation_p.S598C|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Missense_Mutation_p.S598C|PUM2_uc010yjz.1_Missense_Mutation_p.S537C	p.S598C	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			12	1816	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		598			Ser-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1793C>G		.	.	.	.	.	.	.	.	.	.	G	16.43	3.119743	0.56613	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000403432;ENST00000536417	T;T;T;T	0.19532	2.15;2.41;2.15;2.14	5.77	5.77	0.91146	.	0.219302	0.48286	D	0.000194	T	0.32315	0.0825	N	0.22421	0.69	0.39951	D	0.974546	D;D	0.71674	0.996;0.998	P;P	0.61003	0.827;0.882	T	0.04216	-1.0968	10	0.48119	T	0.1	-6.7382	19.9981	0.97395	0.0:0.0:1.0:0.0	.	542;598	B4E2B6;Q8TB72-3	.;.	C	598;598;598;542	ENSP00000338173:S598C;ENSP00000354370:S598C;ENSP00000385992:S598C;ENSP00000440093:S542C	ENSP00000338173:S598C	S	-	2	0	PUM2	20341989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.868000	0.69605	2.729000	0.93468	0.655000	0.94253	TCT		0.438	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015317		4	225	0	0	0	0.009096	0	4	225		
APOB	338	broad.mit.edu	37	2	21228021	21228021	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:21228021C>T	ENST00000233242.1	-	26	11846	c.11719G>A	c.(11719-11721)Gat>Aat	p.D3907N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3907					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D3907N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAACATAATCTGCTTTGTTT	0.428																																						uc002red.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11719-11721)GAT>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						113.0	118.0	116.0					2																	21228021		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228021C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11719G>A	2.37:g.21228021C>T	ENSP00000233242:p.Asp3907Asn						p.D3907N	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11847	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3907					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11719G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491426	0.26774	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.21734	1.99	5.84	4.02	0.46733	.	0.421453	0.22156	N	0.063853	T	0.21468	0.0517	M	0.65975	2.015	0.26170	N	0.97988	P	0.35923	0.528	B	0.34180	0.177	T	0.11179	-1.0598	10	0.34782	T	0.22	.	9.3305	0.38018	0.0:0.7524:0.1206:0.127	.	3907	P04114	APOB_HUMAN	N	3907	ENSP00000233242:D3907N	ENSP00000233242:D3907N	D	-	1	0	APOB	21081526	0.371000	0.25056	0.010000	0.14722	0.420000	0.31355	0.885000	0.28227	1.456000	0.47831	0.655000	0.94253	GAT		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				44	129	0	0	0	0.009718	0	44	129		
ASXL2	55252	broad.mit.edu	37	2	25990452	25990452	+	Splice_Site	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:25990452T>A	ENST00000435504.4	-	8	1068	c.775A>T	c.(775-777)Aga>Tga	p.R259*	ASXL2_ENST00000336112.4_Splice_Site_p.R231*|ASXL2_ENST00000497092.1_5'Flank|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	259					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.R259*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAACTTACTGGTATGGAGT	0.373																																						uc002rgs.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	pancreas(1)	1						c.(775-777)AGA>TGA		additional sex combs like 2							106.0	101.0	103.0					2																	25990452		1859	4096	5955	SO:0001630	splice_region_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25990452T>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.775+1A>T	2.37:g.25990452T>A						ASXL2_uc002rgt.1_5'UTR	p.R259*	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			7	996	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		259					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37	c.775A>T		.	.	.	.	.	.	.	.	.	.	T	40	8.006164	0.98607	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	.	.	.	5.53	3.1	0.35709	.	0.049112	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.2202	11.6856	0.51483	0.0:0.0:0.2814:0.7186	.	.	.	.	X	259;231	.	.	R	-	1	2	ASXL2	25843956	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.413000	0.44618	0.369000	0.24510	0.533000	0.62120	AGA		0.373	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263	Nonsense_Mutation	28	73	0	0	0	0.005443	0	28	73		
CENPA	1058	broad.mit.edu	37	2	27016087	27016087	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27016087C>G	ENST00000335756.4	+	4	563	c.363C>G	c.(361-363)ctC>ctG	p.L121L	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Silent_p.L95L	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	121	H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L121L(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTACTCTCTTCCCAAAGG	0.542																																					Pancreas(28;769 878 30250 30578 41330)	uc002rhr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(361-363)CTC>CTG		centromere protein A isoform a							170.0	176.0	174.0					2																	27016087		2203	4300	6503	SO:0001819	synonymous_variant	1058				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	g.chr2:27016087C>G	U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.363C>G	2.37:g.27016087C>G						CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Silent_p.L95L	p.L121L	NM_001809	NP_001800	P49450	CENPA_HUMAN			4	546	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		121			H3-like.		D6W544|Q53T74|Q9BVW2	Silent	SNP	ENST00000335756.4	37	c.363C>G	CCDS1729.1																																																																																				0.542	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2		NM_001809		56	310	0	0	0	0.01441	0	56	310		
PRR30	339779	broad.mit.edu	37	2	27360613	27360613	+	Silent	SNP	G	G	A	rs137967723	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27360613G>A	ENST00000335524.3	-	3	1110	c.585C>T	c.(583-585)tgC>tgT	p.C195C		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		195								p.C195C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTTGGCACGCATCTCTCCA	0.657																																						uc002rjb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(583-585)TGC>TGT		hypothetical protein LOC339779		G		2,4404	4.2+/-10.8	0,2,2201	42.0	44.0	43.0		585	0.9	0.5	2	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	C2orf53	NM_178553.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		195/413	27360613	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360613G>A																												ENST00000335524.3:c.585C>T	2.37:g.27360613G>A							p.C195C	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1165	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		195					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.585C>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	1.891	-0.455493	0.04540	4.54E-4	0.0	ENSG00000186143	ENST00000432962	.	.	.	4.67	0.894	0.19242	.	.	.	.	.	T	0.53142	0.1778	.	.	.	0.45580	D	0.998524	.	.	.	.	.	.	T	0.39542	-0.9609	4	.	.	.	-14.8151	6.4236	0.21758	0.4113:0.0:0.5887:0.0	.	.	.	.	C	31	.	.	R	-	1	0	C2orf53	27214117	0.039000	0.19947	0.465000	0.27155	0.012000	0.07955	-0.026000	0.12392	-0.020000	0.14032	-0.258000	0.10820	CGT		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1				10	51	0	0	0	0.010729	0	10	51		
SUPT7L	9913	broad.mit.edu	37	2	27884232	27884232	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27884232G>A	ENST00000337768.5	-	3	607	c.38C>T	c.(37-39)tCa>tTa	p.S13L	SUPT7L_ENST00000405491.1_Missense_Mutation_p.S11L|SUPT7L_ENST00000464789.2_Missense_Mutation_p.S11L|SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000406540.1_Missense_Mutation_p.S11L|SUPT7L_ENST00000404798.2_Intron	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	13					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.S13L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGGCTTGATGATATTGGTAT	0.448																																						uc002rlh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(37-39)TCA>TTA		SPTF-associated factor 65 gamma							100.0	105.0	104.0					2																	27884232		1904	4112	6016	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27884232G>A	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.38C>T	2.37:g.27884232G>A	ENSP00000336750:p.Ser13Leu					SUPT7L_uc002rli.1_Missense_Mutation_p.S13L|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.S11L|SUPT7L_uc010ezh.1_Missense_Mutation_p.S11L|SLC4A1AP_uc002rlk.3_5'Flank	p.S13L	NM_014860	NP_055675	O94864	ST65G_HUMAN			3	381	-	Acute lymphoblastic leukemia(172;0.155)		13					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.38C>T	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200324	0.58126	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789	.	.	.	4.71	3.8	0.43715	.	0.278429	0.36234	N	0.002707	T	0.43166	0.1235	N	0.19112	0.55	0.80722	D	1	B;B	0.19200	0.034;0.02	B;B	0.17098	0.017;0.007	T	0.32322	-0.9911	9	0.46703	T	0.11	-3.9784	13.9953	0.64392	0.0:0.0:0.8474:0.1526	.	11;13	O94864-2;O94864	.;ST65G_HUMAN	L	13;11;11;11	.	ENSP00000336750:S13L	S	-	2	0	SUPT7L	27737736	1.000000	0.71417	0.936000	0.37596	0.998000	0.95712	7.371000	0.79600	1.126000	0.42016	0.655000	0.94253	TCA		0.448	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1		NM_014860		9	102	0	0	0	0.006214	0	9	102		
HEATR5B	54497	broad.mit.edu	37	2	37287790	37287790	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:37287790C>G	ENST00000233099.5	-	12	1878	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E595Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	595						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E595Q(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGGGCCTTCTCAGCTTCCAAT	0.448																																						uc002rpp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(2)|breast(1)	8						c.(1783-1785)GAG>CAG		HEAT repeat containing 5B							107.0	105.0	106.0					2																	37287790		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37287790C>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1783G>C	2.37:g.37287790C>G	ENSP00000233099:p.Glu595Gln						p.E595Q	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			12	1879	-		all_hematologic(82;0.21)	595					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1783G>C	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094369	0.94149	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.64438	-0.1;-0.1	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81678	-0.0824	10	0.33141	T	0.24	-15.7325	18.6771	0.91532	0.0:1.0:0.0:0.0	.	595	Q9P2D3	HTR5B_HUMAN	Q	595	ENSP00000233099:E595Q;ENSP00000346531:E595Q	ENSP00000233099:E595Q	E	-	1	0	HEATR5B	37141294	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.981000	0.70524	2.486000	0.83907	0.563000	0.77884	GAG		0.448	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1		NM_019024		13	130	0	0	0	0.013537	0	13	130		
THADA	63892	broad.mit.edu	37	2	43519295	43519295	+	Missense_Mutation	SNP	G	G	C	rs34600960	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:43519295G>C	ENST00000405006.4	-	33	5236	c.4885C>G	c.(4885-4887)Ctg>Gtg	p.L1629V	THADA_ENST00000415080.2_Missense_Mutation_p.L1310V|THADA_ENST00000405975.2_Missense_Mutation_p.L1629V|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1629								p.L1629V(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTGGGGTCAGATGGACACAG	0.488																																						uc002rsw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(4885-4887)CTG>GTG		thyroid adenoma associated							55.0	58.0	57.0					2																	43519295		1948	4139	6087	SO:0001583	missense	63892						binding	g.chr2:43519295G>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4885C>G	2.37:g.43519295G>C	ENSP00000385995:p.Leu1629Val					THADA_uc010far.2_Missense_Mutation_p.L824V|THADA_uc002rsx.3_Missense_Mutation_p.L1629V|THADA_uc002rsy.3_RNA	p.L1629V	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			33	5237	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1629					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4885C>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.845494|1.845494	0.32606|0.32606	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.15718	.|2.62;2.4;2.62	5.18|5.18	4.3|4.3	0.51218|0.51218	.|.	.|0.313210	.|0.25768	.|N	.|0.028432	T|T	0.16769|0.16769	0.0403|0.0403	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D;B	.|0.55605	.|0.972;0.278	.|P;B	.|0.49561	.|0.615;0.084	T|T	0.06789|0.06789	-1.0807|-1.0807	5|10	.|0.46703	.|T	.|0.11	.|.	6.9504|6.9504	0.24542|0.24542	0.0889:0.0:0.7401:0.171|0.0889:0.0:0.7401:0.171	rs34600960|rs34600960	.|1556;1629	.|B6ZDQ0;Q6YHU6	.|.;THADA_HUMAN	M|V	868|1629;1556;1310;1629	.|ENSP00000386088:L1629V;ENSP00000416048:L1310V;ENSP00000385995:L1629V	.|ENSP00000349464:L1556V	I|L	-|-	3|1	3|2	THADA|THADA	43372799|43372799	0.997000|0.997000	0.39634|0.39634	0.653000|0.653000	0.29593|0.29593	0.801000|0.801000	0.45260|0.45260	1.235000|1.235000	0.32671|0.32671	1.186000|1.186000	0.42985|0.42985	0.644000|0.644000	0.83932|0.83932	ATC|CTG		0.488	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3		NM_022065		3	17	0	0	0	0.009096	0	3	17		
NRXN1	9378	broad.mit.edu	37	2	50779755	50779755	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:50779755G>A	ENST00000406316.2	-	9	3205	c.1729C>T	c.(1729-1731)Cat>Tat	p.H577Y	NRXN1_ENST00000402717.3_Missense_Mutation_p.H569Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.H577Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.H577Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.H617Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.H569Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	577	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.H618N(1)|p.H577Y(1)|p.H617Y(1)|p.H577N(1)|p.H618Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGTCCACATGATACCATTCT	0.458																																						uc010fbq.2		NaN																	5	Substitution - Missense(5)		urinary_tract(3)|large_intestine(2)	ovary(2)	2						c.(1849-1851)CAT>TAT		neurexin 1 isoform alpha2 precursor							144.0	135.0	137.0					2																	50779755		1899	4108	6007	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50779755G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1729C>T	2.37:g.50779755G>A	ENSP00000384311:p.His577Tyr					NRXN1_uc002rxb.3_Missense_Mutation_p.H249Y|NRXN1_uc002rxe.3_Missense_Mutation_p.H577Y|NRXN1_uc002rxc.1_RNA	p.H617Y	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3326	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1849C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061546	0.93846	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.86981	0.6064	L	0.61218	1.895	0.51233	D	0.999914	D;D;D	0.76494	0.992;0.998;0.999	D;D;D	0.87578	0.92;0.994;0.998	T	0.83162	-0.0098	10	0.29301	T	0.29	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	617;577;569	Q9ULB1-3;F8WB18;A7E294	.;.;.	Y	617;577;569;577;618;569;577	ENSP00000385142:H617Y;ENSP00000384311:H577Y;ENSP00000434015:H569Y;ENSP00000385017:H577Y;ENSP00000385434:H569Y;ENSP00000385681:H577Y	ENSP00000385017:H577Y	H	-	1	0	NRXN1	50633259	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.799000	0.99117	2.814000	0.96858	0.591000	0.81541	CAT		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				8	173	0	0	0	0.006214	0	8	173		
ETAA1	54465	broad.mit.edu	37	2	67637048	67637048	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:67637048G>C	ENST00000272342.5	+	6	2789	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	887	Poly-Glu.					cytoplasm (GO:0005737)		p.E887Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTAGAGGAAGAAGAGAAAAA	0.333																																						uc002sdz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(2659-2661)GAA>CAA		ETAA16 protein							76.0	93.0	87.0					2																	67637048		2203	4297	6500	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67637048G>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2659G>C	2.37:g.67637048G>C	ENSP00000272342:p.Glu887Gln						p.E887Q	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			6	2798	+			887			Poly-Glu.		Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2659G>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711832	0.68730	.	.	ENSG00000143971	ENST00000272342	T	0.32272	1.46	5.77	4.86	0.63082	.	0.139794	0.53938	D	0.000044	T	0.52484	0.1737	M	0.71581	2.175	0.41091	D	0.985592	D	0.76494	0.999	D	0.70016	0.967	T	0.56956	-0.7893	10	0.72032	D	0.01	-10.6409	12.1497	0.54044	0.088:0.0:0.912:0.0	.	887	Q9NY74	ETAA1_HUMAN	Q	887	ENSP00000272342:E887Q	ENSP00000272342:E887Q	E	+	1	0	ETAA1	67490552	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.202000	0.58446	1.361000	0.45981	0.591000	0.81541	GAA		0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1		NM_019002		13	199	0	0	0	0.001855	0	13	199		
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741																																						uc002smi.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(10-12)CCG>CCA		HtrA serine peptidase 2 isoform 1 preproprotein							16.0	22.0	20.0					2																	74757145		1713	3678	5391	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757145G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.12G>A	2.37:g.74757145G>A						AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.P4P	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	614	+			4					Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.12G>A	CCDS1951.1																																																																																				0.741	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2		NM_013247		3	24	0	0	0	0.004672	0	3	24		
REV1	51455	broad.mit.edu	37	2	100019387	100019387	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:100019387G>A	ENST00000258428.3	-	20	3577	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Silent_p.L1116L|REV1_ENST00000465835.1_5'Flank	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1117					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.L1117L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATGTTTTAGAAACCCATCA	0.408								Direct reversal of damage																														uc002tad.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(3349-3351)CTA>TTA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							95.0	101.0	99.0					2																	100019387		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100019387G>A	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3349C>T	2.37:g.100019387G>A						REV1_uc002tac.2_Silent_p.L1116L	p.L1117L	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			20	3561	-			1117					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.3349C>T	CCDS2045.1																																																																																				0.408	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2		NM_016316		12	154	0	0	0	0.013537	0	12	154		
MAP3K2	10746	broad.mit.edu	37	2	128066317	128066317	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:128066317G>C	ENST00000409947.1	-	16	1760	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.S493*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S493*(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	GTTGCCTGTTGAATCTCGCAG	0.433																																						uc002toj.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7						c.(1477-1479)TCA>TGA		mitogen-activated protein kinase kinase kinase							96.0	93.0	94.0					2																	128066317		1901	4130	6031	SO:0001587	stop_gained	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128066317G>C	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1478C>G	2.37:g.128066317G>C	ENSP00000387246:p.Ser493*						p.S493*	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	15	1543	-	Colorectal(110;0.1)		493			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Nonsense_Mutation	SNP	ENST00000409947.1	37	c.1478C>G	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	40	8.073134	0.98640	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.7201	0.96139	0.0:0.0:1.0:0.0	.	.	.	.	X	493	.	ENSP00000343463:S493X	S	-	2	0	MAP3K2	127782787	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.756000	0.98918	2.661000	0.90470	0.561000	0.74099	TCA		0.433	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1		NM_006609		13	146	0	0	0	0.001855	0	13	146		
R3HDM1	23518	broad.mit.edu	37	2	136433011	136433011	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:136433011G>C	ENST00000264160.4	+	19	2527	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q591H|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q590H|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q720H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q664H	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	719							poly(A) RNA binding (GO:0044822)	p.Q719H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTGGAAATCAGATTCAAGGAG	0.423																																						uc002tuo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2155-2157)CAG>CAC		R3H domain containing 1							193.0	167.0	176.0					2																	136433011		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136433011G>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2157G>C	2.37:g.136433011G>C	ENSP00000264160:p.Gln719His					R3HDM1_uc010fni.2_Missense_Mutation_p.Q718H|R3HDM1_uc002tup.2_Missense_Mutation_p.Q664H|R3HDM1_uc010zbh.1_Missense_Mutation_p.Q467H	p.Q719H	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	19	2527	+			719					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2157G>C	CCDS2177.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.99|11.99|11.99	1.804538|1.804538|1.804538	0.31869|0.31869|0.31869	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000445855	.|T;T;T;T;T|.	.|0.40476|.	.|1.07;1.06;1.03;1.07;1.06|.	5.19|5.19|5.19	2.27|2.27|2.27	0.28462|0.28462|0.28462	.|.|.	.|0.107594|.	.|0.64402|.	.|N|.	.|0.000004|.	T|T|T	0.32102|0.32102|0.32102	0.0818|0.0818|0.0818	L|L|L	0.39147|0.39147|0.39147	1.195|1.195|1.195	0.27539|0.27539|0.27539	N|N|N	0.950846|0.950846|0.950846	.|B;B;B;B|.	.|0.16166|.	.|0.016;0.004;0.0;0.001|.	.|B;B;B;B|.	.|0.16289|.	.|0.015;0.004;0.002;0.001|.	T|T|T	0.24083|0.24083|0.24083	-1.0170|-1.0170|-1.0170	5|10|5	.|0.49607|.	.|T|.	.|0.09|.	-1.5715|-1.5715|-1.5715	2.9777|2.9777|2.9777	0.05943|0.05943|0.05943	0.21:0.128:0.5236:0.1384|0.21:0.128:0.5236:0.1384|0.21:0.128:0.5236:0.1384	.|.|.	.|591;720;664;719|.	.|G5E9G8;E9PBB4;E9PG42;Q15032|.	.|.;.;.;R3HD1_HUMAN|.	H|H|T	443|591;719;590;664;720|15	.|ENSP00000386457:Q591H;ENSP00000264160:Q719H;ENSP00000331396:Q590H;ENSP00000386877:Q664H;ENSP00000387010:Q720H|.	.|ENSP00000264160:Q719H|.	D|Q|R	+|+|+	1|3|2	0|2|0	R3HDM1|R3HDM1|R3HDM1	136149481|136149481|136149481	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	1.167000|1.167000|1.167000	0.31847|0.31847|0.31847	0.642000|0.642000|0.642000	0.30620|0.30620|0.30620	-0.137000|-0.137000|-0.137000	0.14449|0.14449|0.14449	GAT|CAG|AGA		0.423	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1		NM_015361		10	135	0	0	0	0.010729	0	10	135		
ZEB2	9839	broad.mit.edu	37	2	145157492	145157492	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:145157492C>T	ENST00000558170.2	-	8	2446	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	ZEB2_ENST00000539609.3_Missense_Mutation_p.G397E|ZEB2_ENST00000303660.4_Missense_Mutation_p.G421E|ZEB2_ENST00000409487.3_Missense_Mutation_p.G421E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	421					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.G421E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGGTGGCTCCAAGCCCACC	0.453																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1261-1263)GGA>GAA		zinc finger homeobox 1b							68.0	73.0	71.0					2																	145157492		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157492C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1262G>A	2.37:g.145157492C>T	ENSP00000454157:p.Gly421Glu					ZEB2_uc002tvv.2_Missense_Mutation_p.G415E|ZEB2_uc010zbm.1_Missense_Mutation_p.G392E|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G450E	p.G421E	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1742	-			421					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1262G>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639733	0.67244	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.13778	2.58;2.56;2.56;2.75;2.7	5.53	5.53	0.82687	.	0.046953	0.85682	D	0.000000	T	0.25938	0.0632	L	0.34521	1.04	0.80722	D	1	P;D;D;D	0.57899	0.712;0.964;0.964;0.981	P;P;P;P	0.58721	0.713;0.563;0.461;0.844	T	0.00647	-1.1628	10	0.72032	D	0.01	-7.4584	19.4645	0.94932	0.0:1.0:0.0:0.0	.	397;286;420;421	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	E	397;421;421;421;421	ENSP00000443792:G397E;ENSP00000302501:G421E;ENSP00000386854:G421E;ENSP00000395496:G421E;ENSP00000376601:G421E	ENSP00000302501:G421E	G	-	2	0	ZEB2	144873962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	2.587000	0.87381	0.655000	0.94253	GGA		0.453	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795		17	99	0	0	0	0.004007	0	17	99		
TANC1	85461	broad.mit.edu	37	2	160035372	160035372	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:160035372C>T	ENST00000263635.6	+	14	2445	c.2208C>T	c.(2206-2208)ctC>ctT	p.L736L	TANC1_ENST00000454300.1_Silent_p.L630L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	736					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.L736L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCTCTGAGCTCTATTTGCTTC	0.552																																						uc002uag.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2206-2208)CTC>CTT		tetratricopeptide repeat, ankyrin repeat and							146.0	148.0	147.0					2																	160035372		2029	4179	6208	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035372C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2208C>T	2.37:g.160035372C>T						TANC1_uc010fol.1_Silent_p.L630L|TANC1_uc010zcm.1_Silent_p.L728L|TANC1_uc010fom.1_Silent_p.L542L|TANC1_uc002uai.1_RNA	p.L736L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2482	+			736					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2208C>T	CCDS42766.1																																																																																				0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1				29	268	0	0	0	0.008361	0	29	268		
BAZ2B	29994	broad.mit.edu	37	2	160295645	160295645	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:160295645C>T	ENST00000392783.2	-	7	1270	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G257S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G257S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G259S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	259	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G259S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTACTAATGCCTTCACTTGAG	0.388																																						uc002uao.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(775-777)GGC>AGC		bromodomain adjacent to zinc finger domain, 2B							331.0	295.0	306.0					2																	160295645		1951	4154	6105	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295645C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.775G>A	2.37:g.160295645C>T	ENSP00000376534:p.Gly259Ser					BAZ2B_uc002uap.2_Missense_Mutation_p.G257S|BAZ2B_uc002uas.1_Missense_Mutation_p.G196S|BAZ2B_uc002uau.1_Missense_Mutation_p.G257S|BAZ2B_uc002uaq.1_Missense_Mutation_p.G187S|BAZ2B_uc002uat.3_Missense_Mutation_p.G196S|BAZ2B_uc010fop.1_Missense_Mutation_p.G257S	p.G259S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			7	1127	-			259			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.775G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321745	0.81580	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.51	5.51	0.81932	.	0.000000	0.37715	U	0.001961	T	0.28167	0.0695	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.999;0.999;0.998	T	0.00275	-1.1856	10	0.56958	D	0.05	-8.3182	19.4202	0.94719	0.0:1.0:0.0:0.0	.	257;196;259;257;257;259	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	S	257;259;259;257;196	ENSP00000376533:G257S;ENSP00000376534:G259S;ENSP00000348087:G259S;ENSP00000339670:G257S	ENSP00000339670:G257S	G	-	1	0	BAZ2B	160003891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GGC		0.388	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				35	235	0	0	0	0.013726	0	35	235		
CCDC173	129881	broad.mit.edu	37	2	170502533	170502533	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:170502533G>C	ENST00000447353.1	-	9	1582	c.1477C>G	c.(1477-1479)Ctt>Gtt	p.L493V		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	493								p.L487V(1)									GCTTTTACAAGAGGGTAAATA	0.433																																						uc002ufe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1477-1479)CTT>GTT		hypothetical protein LOC129881							179.0	182.0	181.0					2																	170502533		1865	4099	5964	SO:0001583	missense	129881							g.chr2:170502533G>C	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1477C>G	2.37:g.170502533G>C	ENSP00000391504:p.Leu493Val						p.L493V	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			9	1571	-			493					Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.1477C>G	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697611	0.48307	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.72	2.76	0.32466	.	0.199463	0.32357	N	0.006212	T	0.56731	0.2005	M	0.69823	2.125	0.40995	D	0.984881	P	0.48294	0.908	B	0.44224	0.444	T	0.61907	-0.6966	9	0.72032	D	0.01	.	9.4212	0.38553	0.0721:0.0:0.6644:0.2636	.	493	Q0VFZ6	CB077_HUMAN	V	493	.	ENSP00000391504:L493V	L	-	1	0	C2orf77	170210779	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.074000	0.50065	0.794000	0.33899	0.655000	0.94253	CTT		0.433	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2		NM_001085447		71	174	0	0	0	0.01441	0	71	174		
TTN	7273	broad.mit.edu	37	2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G	rs556218739		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:179397871C>G	ENST00000591111.1	-	308	98772	c.98548G>C	c.(98548-98550)Gaa>Caa	p.E32850Q	TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34491Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31923Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25618Q|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25551Q|TTN_ENST00000460472.2_Missense_Mutation_p.E25426Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32850					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E25551Q(1)|p.E25618Q(1)|p.E25426Q(1)|p.E31921Q(1)|p.E31923Q(1)		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)			GGTACACTTTCAGTTCCAGAA	0.433																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	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.(95767-95769)GAA>CAA		titin isoform N2-A							175.0	172.0	173.0					2																	179397871		1896	4118	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397871C>G	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.98548G>C	2.37:g.179397871C>G	ENSP00000465570:p.Glu32850Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25618Q|TTN_uc010zfi.1_Missense_Mutation_p.E25551Q|TTN_uc010zfj.1_Missense_Mutation_p.E25426Q	p.E31923Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	95991	-			32850					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.95767G>C		.	.	.	.	.	.	.	.	.	.	C	16.57	3.159292	0.57368	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;0.19;0.17;0.16	5.94	5.94	0.96194	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60248	0.2254	N	0.14661	0.345	0.49483	D	0.999798	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	P;P;P;P	0.52109	0.617;0.69;0.69;0.69	T	0.65981	-0.6036	9	0.87932	D	0	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	25426;25551;25618;32850	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31923;25426;25618;25551;25423	ENSP00000343764:E31923Q;ENSP00000434586:E25426Q;ENSP00000340554:E25618Q;ENSP00000352154:E25551Q	ENSP00000340554:E25618Q	E	-	1	0	TTN	179106117	1.000000	0.71417	0.529000	0.27951	0.888000	0.51559	7.794000	0.85869	2.826000	0.97356	0.561000	0.74099	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		15	206	0	0	0	0.00245	0	15	206		
TTN	7273	broad.mit.edu	37	2	179477688	179477688	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:179477688A>G	ENST00000591111.1	-	215	45061	c.44837T>C	c.(44836-44838)gTc>gCc	p.V14946A	TTN_ENST00000589042.1_Missense_Mutation_p.V16587A|TTN_ENST00000342992.6_Missense_Mutation_p.V14019A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7714A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7647A|TTN_ENST00000460472.2_Missense_Mutation_p.V7522A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14946	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V14019A(2)|p.V7522A(1)|p.V7714A(1)|p.V7647A(1)		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)			CATTTCAATGACATAAGACTC	0.478																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	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.(42055-42057)GTC>GCC		titin isoform N2-A							90.0	88.0	89.0					2																	179477688		1983	4173	6156	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477688A>G	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.44837T>C	2.37:g.179477688A>G	ENSP00000465570:p.Val14946Ala					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7714A|TTN_uc010zfi.1_Missense_Mutation_p.V7647A|TTN_uc010zfj.1_Missense_Mutation_p.V7522A	p.V14019A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		214	42280	-			14946					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.42056T>C		.	.	.	.	.	.	.	.	.	.	A	7.200	0.593241	0.13875	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.6	4.44	0.53790	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52980	0.1768	L	0.55990	1.75	0.30325	N	0.787233	B;B;B;B	0.31655	0.334;0.334;0.334;0.334	B;B;B;B	0.37888	0.153;0.153;0.26;0.26	T	0.58340	-0.7653	9	0.87932	D	0	.	11.6901	0.51510	0.9306:0.0:0.0694:0.0	.	7522;7647;7714;14946	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14019;7522;7714;7647;7522	ENSP00000343764:V14019A;ENSP00000434586:V7522A;ENSP00000340554:V7714A;ENSP00000352154:V7647A	ENSP00000340554:V7714A	V	-	2	0	TTN	179185933	1.000000	0.71417	0.696000	0.30242	0.422000	0.31414	7.475000	0.81041	0.955000	0.37878	-0.385000	0.06624	GTC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		8	62	0	0	0	0.00308	0	8	62		
DNER	92737	broad.mit.edu	37	2	230312236	230312236	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:230312236C>T	ENST00000341772.4	-	8	1416	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	428	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.E428K(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACCTTTTCTTCACAAGCAGAT	0.483																																						uc002vpv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(5)|ovary(2)|skin(1)	8						c.(1282-1284)GAA>AAA		delta-notch-like EGF repeat-containing							34.0	35.0	35.0					2																	230312236		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230312236C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1282G>A	2.37:g.230312236C>T	ENSP00000345229:p.Glu428Lys					DNER_uc010zly.1_Missense_Mutation_p.E156K	p.E428K	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	8	1429	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	428			Extracellular (Potential).|EGF-like 5.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1282G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704561	0.88924	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.91631	-2.88	4.94	4.94	0.65067	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.047200	0.85682	D	0.000000	D	0.92642	0.7662	M	0.87682	2.9	0.80722	D	1	P	0.43750	0.816	B	0.36766	0.232	D	0.94292	0.7529	10	0.72032	D	0.01	.	18.5296	0.90986	0.0:1.0:0.0:0.0	.	428	Q8NFT8	DNER_HUMAN	K	428;156	ENSP00000345229:E428K	ENSP00000345229:E428K	E	-	1	0	DNER	230020480	1.000000	0.71417	0.995000	0.50966	0.772000	0.43724	5.665000	0.68052	2.442000	0.82660	0.655000	0.94253	GAA		0.483	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		NM_139072		4	31	0	0	0	0.009096	0	4	31		
RBM44	375316	broad.mit.edu	37	2	238726510	238726510	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:238726510G>C	ENST00000409864.1	+	3	1205	c.951G>C	c.(949-951)ttG>ttC	p.L317F	RBM44_ENST00000316997.4_Missense_Mutation_p.L317F|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	316						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L317F(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTGGTTCCTTGAGCCCTCAAA	0.318																																						uc002vxi.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)	4						c.(949-951)TTG>TTC		RNA binding motif protein 44							46.0	43.0	44.0					2																	238726510		1809	4068	5877	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726510G>C	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.951G>C	2.37:g.238726510G>C	ENSP00000386727:p.Leu317Phe						p.L317F	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1083	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	316					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.951G>C	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299246	0.23650	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.23147	1.92;1.92	5.86	-3.75	0.04372	.	0.373259	0.22765	N	0.055920	T	0.14700	0.0355	L	0.40543	1.245	0.09310	N	1	B	0.21905	0.062	B	0.20184	0.028	T	0.10291	-1.0636	10	0.36615	T	0.2	-0.0122	5.0537	0.14522	0.4736:0.0:0.1937:0.3328	.	316	Q6ZP01	RBM44_HUMAN	F	317	ENSP00000321179:L317F;ENSP00000386727:L317F	ENSP00000321179:L317F	L	+	3	2	RBM44	238391249	0.000000	0.05858	0.000000	0.03702	0.313000	0.28021	-0.463000	0.06696	-0.897000	0.03910	-0.899000	0.02877	TTG		0.318	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2		NM_001080504		6	48	0	0	0	0.001168	0	6	48		
UQCC1	55245	broad.mit.edu	37	20	33969816	33969816	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:33969816T>C	ENST00000374385.5	-	4	415	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	UQCC1_ENST00000349714.5_Missense_Mutation_p.K80E|UQCC1_ENST00000374384.2_Missense_Mutation_p.K80E|UQCC1_ENST00000397556.3_5'UTR|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000542501.1_Missense_Mutation_p.K80E|UQCC1_ENST00000359226.2_Missense_Mutation_p.K80E|UQCC1_ENST00000397554.1_Missense_Mutation_p.K80E|UQCC1_ENST00000374380.2_Intron	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	80						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)		p.K80E(1)									GGGGAATCTTTGGTAGTAGAA	0.358																																						uc002xcd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(238-240)AAA>GAA		basic FGF-repressed Zic binding protein isoform							119.0	121.0	120.0					20																	33969816		2203	4300	6503	SO:0001583	missense	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33969816T>C	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.238A>G	20.37:g.33969816T>C	ENSP00000363506:p.Lys80Glu					UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.K80E|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.K80E|UQCC_uc010zvb.1_Intron|UQCC_uc002xcf.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.K34E|UQCC_uc010gfd.1_Missense_Mutation_p.K66E	p.K80E	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	305	-			80					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.238A>G	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637055	0.47049	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374385;ENST00000424405;ENST00000542501;ENST00000438533;ENST00000397554	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.72	2.33	0.28932	.	0.189902	0.43110	D	0.000605	T	0.66005	0.2746	L	0.52759	1.655	0.40680	D	0.982291	B;B;P;P;B	0.38335	0.376;0.129;0.518;0.627;0.033	B;B;B;B;B	0.37144	0.114;0.05;0.164;0.242;0.013	T	0.63980	-0.6514	10	0.59425	D	0.04	-13.3431	9.5195	0.39126	0.0:0.0:0.3447:0.6553	.	72;80;80;80;80	Q59FR0;B7ZBG3;B1AKV2;B7ZBG4;Q9NVA1	.;.;.;.;UQCC_HUMAN	E	80;80;80;80;48;80;94;80	ENSP00000335364:K80E;ENSP00000352161:K80E;ENSP00000363505:K80E;ENSP00000363506:K80E;ENSP00000399713:K48E;ENSP00000445059:K80E;ENSP00000398531:K94E;ENSP00000380686:K80E	ENSP00000335364:K80E	K	-	1	0	UQCC	33433230	0.998000	0.40836	0.262000	0.24481	0.879000	0.50718	2.102000	0.41796	0.269000	0.21961	0.528000	0.53228	AAA		0.358	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1		NM_018244		91	251	0	0	0	0.01441	0	91	251		
IFT52	51098	broad.mit.edu	37	20	42271258	42271258	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:42271258G>C	ENST00000373030.3	+	13	1390	c.1260G>C	c.(1258-1260)ttG>ttC	p.L420F	IFT52_ENST00000373039.4_Missense_Mutation_p.L420F|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	420					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)	p.L420F(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAAGAAATTGAACCAGGTAC	0.463																																						uc002xkw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1258-1260)TTG>TTC		intraflagellar transport 52 homolog							106.0	90.0	96.0					20																	42271258		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42271258G>C	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1260G>C	20.37:g.42271258G>C	ENSP00000362121:p.Leu420Phe					IFT52_uc002xky.2_Missense_Mutation_p.L420F|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.L396F|IFT52_uc002xkz.2_Intron	p.L420F	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1382	+		Myeloproliferative disorder(115;0.00452)	420					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.1260G>C	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194089	0.38707	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.36	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.58302	1.8	0.49582	D	0.999806	D	0.89917	1.0	D	0.68943	0.961	T	0.62877	-0.6761	9	0.39692	T	0.17	-10.5725	3.9679	0.09439	0.2761:0.183:0.5409:0.0	.	420	Q9Y366	IFT52_HUMAN	F	420	.	ENSP00000362121:L420F	L	+	3	2	IFT52	41704672	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	0.885000	0.28227	1.322000	0.45245	0.650000	0.86243	TTG		0.463	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1		NM_016004		5	60	0	0	0	0.001984	0	5	60		
MMP9	4318	broad.mit.edu	37	20	44640217	44640217	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:44640217C>G	ENST00000372330.3	+	6	847	c.828C>G	c.(826-828)ctC>ctG	p.L276L	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	276					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L276L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCCCAGGACTCTACACCCAGG	0.577											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xqz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(826-828)CTC>CTG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						98.0	90.0	92.0					20																	44640217		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44640217C>G		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.828C>G	20.37:g.44640217C>G			OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.L276L	NM_004994	NP_004985	P14780	MMP9_HUMAN			6	847	+		Myeloproliferative disorder(115;0.0122)	276					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.828C>G	CCDS13390.1																																																																																				0.577	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1				6	66	0	0	0	0.001984	0	6	66		
DDX27	55661	broad.mit.edu	37	20	47841697	47841697	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:47841697C>T	ENST00000371764.4	+	6	663	c.654C>T	c.(652-654)ctC>ctT	p.L218L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	218						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.L218L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGAAAACCTCTCGTTCCAGG	0.413																																						uc002xuh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(2)	2						c.(652-654)CTC>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							134.0	134.0	134.0					20																	47841697		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47841697C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.654C>T	20.37:g.47841697C>T							p.L218L	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		6	715	+			218			Q motif.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.654C>T	CCDS13416.1																																																																																				0.413	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1				17	238	0	0	0	0.007413	0	17	238		
STX16	8675	broad.mit.edu	37	20	57251299	57251299	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:57251299C>T	ENST00000371141.4	+	9	1654	c.930C>T	c.(928-930)gtC>gtT	p.V310V	STX16_ENST00000358029.4_Silent_p.V306V|STX16_ENST00000371132.4_Silent_p.V289V|STX16_ENST00000361770.5_Silent_p.V293V|STX16_ENST00000359617.4_Silent_p.V257V|STX16_ENST00000355957.5_Silent_p.V293V|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361830.3_Silent_p.V310V	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	310					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.V289V(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TATTATTTGTCATCATCATTG	0.448																																						uc002xzi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(928-930)GTC>GTT		syntaxin 16 isoform a							263.0	245.0	251.0					20																	57251299		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57251299C>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.930C>T	20.37:g.57251299C>T						STX16_uc010zzq.1_Silent_p.V124V|STX16_uc002xzk.2_Silent_p.V293V|STX16_uc002xzm.2_Silent_p.V306V|STX16_uc002xzj.2_Silent_p.V289V|STX16_uc002xzl.2_Silent_p.V124V	p.V310V	NM_001001433	NP_001001433	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		9	1665	+	all_lung(29;0.0175)		310			Helical; Anchor for type IV membrane protein; (Potential).		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.930C>T	CCDS13468.1																																																																																				0.448	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2		NM_001001433		21	185	0	0	0	0.00278	0	21	185		
COL20A1	57642	broad.mit.edu	37	20	61944555	61944555	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:61944555C>T	ENST00000358894.6	+	17	2263	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	COL20A1_ENST00000422202.1_Silent_p.Y728Y|COL20A1_ENST00000326996.6_Silent_p.Y721Y|COL20A1_ENST00000435874.1_Silent_p.Y728Y	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	721	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.Y721Y(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGCCTACTACAGGGACGGGG	0.657																																						uc011aau.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2161-2163)TAC>TAT		collagen, type XX, alpha 1							53.0	59.0	57.0					20																	61944555		1997	4147	6144	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61944555C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2163C>T	20.37:g.61944555C>T						COL20A1_uc011aav.1_Silent_p.Y542Y	p.Y721Y	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			17	2263	+	all_cancers(38;1.39e-10)		721			Fibronectin type-III 5.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.2163C>T	CCDS46628.1																																																																																				0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2		NM_020882		3	32	0	0	0	0.009096	0	3	32		
CLIC6	54102	broad.mit.edu	37	21	36088774	36088774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:36088774G>A	ENST00000360731.3	+	7	2109	c.2109G>A	c.(2107-2109)atG>atA	p.M703I	CLIC6_ENST00000349499.2_Missense_Mutation_p.M685I			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	703	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.M685I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CAAAAAGAATGAAATGAAGCT	0.373																																						uc010gmt.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(2107-2109)ATG>ATA		chloride intracellular channel 6							98.0	98.0	98.0					21																	36088774		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088774G>A	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2109G>A	21.37:g.36088774G>A	ENSP00000353959:p.Met703Ile					CLIC6_uc002yuf.1_Missense_Mutation_p.M685I	p.M703I	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN			7	2109	+			703			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2109G>A		.	.	.	.	.	.	.	.	.	.	G	14.81	2.647919	0.47258	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.25912	1.77;1.87	5.66	3.75	0.43078	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.061282	0.64402	D	0.000001	T	0.10895	0.0266	N	0.03000	-0.44	0.37578	D	0.91971	B;B	0.29136	0.15;0.234	B;B	0.32090	0.066;0.14	T	0.10382	-1.0632	10	0.72032	D	0.01	-15.1257	6.0991	0.20037	0.0716:0.1338:0.6562:0.1385	.	703;685	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	I	703;685	ENSP00000353959:M703I;ENSP00000290332:M685I	ENSP00000290332:M685I	M	+	3	0	CLIC6	35010644	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	4.275000	0.58927	1.396000	0.46663	0.563000	0.77884	ATG		0.373	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1				6	100	0	0	0	0.001168	0	6	100		
PSMG1	8624	broad.mit.edu	37	21	40547517	40547517	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:40547517C>G	ENST00000331573.3	-	7	1331	c.866G>C	c.(865-867)tGa>tCa	p.*289S	PSMG1_ENST00000380900.2_Nonstop_Mutation_p.*268S	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	0					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.*289S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TGTTTAAGATCATGTATAAAT	0.333											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002yxi.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)		0						c.(865-867)TGA>TCA		Down syndrome critical region protein 2 isoform							186.0	181.0	183.0					21																	40547517		2203	4300	6503	SO:0001578	stop_lost	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40547517C>G	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.866G>C	21.37:g.40547517C>G			OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	PSMG1_uc002yxj.2_Nonstop_Mutation_p.*268S|PSMG1_uc010gob.2_Nonstop_Mutation_p.*202S	p.*289S	NM_003720	NP_003711	O95456	PSMG1_HUMAN			7	995	-		Prostate(19;8.44e-08)	289					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Nonstop_Mutation	SNP	ENST00000331573.3	37	c.866G>C	CCDS13660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.183473|3.183473	0.57800|0.57800	.|.	.|.	ENSG00000183527|ENSG00000183527	ENST00000440607|ENST00000331573;ENST00000380900	.|.	.|.	.|.	5.52|5.52	4.64|4.64	0.57946|0.57946	.|.	.|.	.|.	.|.	.|.	T|.	0.37046|.	0.0989|.	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999984|0.999984	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21759|.	-1.0236|.	4|.	.|.	.|.	.|.	.|.	8.9827|8.9827	0.35974|0.35974	0.0:0.7716:0.0:0.2284|0.0:0.7716:0.0:0.2284	.|.	.|.	.|.	.|.	I|S	145|289;268	.|.	.|.	M|X	-|-	3|2	0|2	PSMG1|PSMG1	39469387|39469387	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.639000|0.639000	0.38242|0.38242	2.235000|2.235000	0.43044|0.43044	1.346000|1.346000	0.45694|0.45694	-0.142000|-0.142000	0.14014|0.14014	ATG|TGA		0.333	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2		NM_003720		3	77	0	0	0	0.009096	0	3	77		
PSMG1	8624	broad.mit.edu	37	21	40547542	40547542	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:40547542C>G	ENST00000331573.3	-	7	1306	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	PSMG1_ENST00000380900.2_Missense_Mutation_p.E260Q	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	281					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.E281Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTCTGAATCTCATTTGTTGTC	0.368											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002yxi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(841-843)GAG>CAG		Down syndrome critical region protein 2 isoform							215.0	208.0	210.0					21																	40547542		2203	4300	6503	SO:0001583	missense	8624				proteasome assembly	endoplasmic reticulum	protein binding	g.chr21:40547542C>G	AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.841G>C	21.37:g.40547542C>G	ENSP00000329915:p.Glu281Gln		OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894	PSMG1_uc002yxj.2_Missense_Mutation_p.E260Q|PSMG1_uc010gob.2_Missense_Mutation_p.E194Q	p.E281Q	NM_003720	NP_003711	O95456	PSMG1_HUMAN			7	970	-		Prostate(19;8.44e-08)	281					B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Missense_Mutation	SNP	ENST00000331573.3	37	c.841G>C	CCDS13660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.08|15.08	2.725978|2.725978	0.48833|0.48833	.|.	.|.	ENSG00000183527|ENSG00000183527	ENST00000331573;ENST00000380900|ENST00000440607	T;T|.	0.04970|.	3.52;3.52|.	5.52|5.52	4.63|4.63	0.57726|0.57726	.|.	0.353038|.	0.32593|.	N|.	0.005900|.	T|.	0.67515|.	0.2901|.	L|L	0.52126|0.52126	1.63|1.63	0.47214|0.47214	D|D	0.999358|0.999358	B;B|.	0.29301|.	0.241;0.241|.	B;B|.	0.28305|.	0.088;0.066|.	T|.	0.65421|.	-0.6172|.	10|.	0.54805|.	T|.	0.06|.	-13.5242|-13.5242	15.6319|15.6319	0.76917|0.76917	0.0:0.8627:0.1373:0.0|0.0:0.8627:0.1373:0.0	.|.	260;281|.	O95456-2;O95456|.	.;PSMG1_HUMAN|.	Q|S	281;260|137	ENSP00000329915:E281Q;ENSP00000370286:E260Q|.	ENSP00000329915:E281Q|.	E|X	-|-	1|2	0|2	PSMG1|PSMG1	39469412|39469412	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.995000|0.995000	0.86356|0.86356	3.338000|3.338000	0.52128|0.52128	1.307000|1.307000	0.44944|0.44944	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.368	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141404.2		NM_003720		4	84	0	0	0	0.000602	0	4	84		
DSCAM	1826	broad.mit.edu	37	21	41427661	41427661	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:41427661C>G	ENST00000400454.1	-	29	5503	c.5026G>C	c.(5026-5028)Gag>Cag	p.E1676Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1676					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1676Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAATGGTCTCCATCGTGTCT	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5026-5028)GAG>CAG		Down syndrome cell adhesion molecule isoform							158.0	157.0	157.0					21																	41427661		1947	4146	6093	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41427661C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5026G>C	21.37:g.41427661C>G	ENSP00000383303:p.Glu1676Gln					DSCAM_uc002yyr.1_RNA	p.E1676Q	NM_001389	NP_001380	O60469	DSCAM_HUMAN			29	5478	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1676			Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5026G>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643955	0.67244	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.61627	0.09;0.19	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.27053	0.805	0.49130	D	0.999756	P	0.34864	0.473	B	0.28553	0.091	T	0.47315	-0.9127	10	0.48119	T	0.1	.	19.0713	0.93138	0.0:1.0:0.0:0.0	.	1676	O60469	DSCAM_HUMAN	Q	1676;1428	ENSP00000383303:E1676Q;ENSP00000385342:E1428Q	ENSP00000383303:E1676Q	E	-	1	0	DSCAM	40349531	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.354000	0.79424	2.677000	0.91161	0.655000	0.94253	GAG		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		20	68	0	0	0	0.008871	0	20	68		
CECR2	27443	broad.mit.edu	37	22	18022144	18022144	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:18022144C>G	ENST00000400585.2	+	16	2261	c.1823C>G	c.(1822-1824)tCt>tGt	p.S608C	CECR2_ENST00000262608.8_Missense_Mutation_p.S750C|CECR2_ENST00000400573.5_Missense_Mutation_p.S749C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	791					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.S749C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGTACACTCTGCCGTCTGG	0.582																																						uc010gqw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2245-2247)TCT>TGT		cat eye syndrome chromosome region, candidate 2							38.0	42.0	41.0					22																	18022144		1942	4139	6081	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022144C>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1823C>G	22.37:g.18022144C>G	ENSP00000383428:p.Ser608Cys					CECR2_uc010gqv.1_Missense_Mutation_p.S608C|CECR2_uc002zml.2_Missense_Mutation_p.S608C	p.S749C	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2372	+		all_epithelial(15;0.139)	791					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2246C>G		.	.	.	.	.	.	.	.	.	.	C	12.06	1.824483	0.32237	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27557	1.77;1.77;1.66	5.29	4.25	0.50352	.	0.665350	0.13874	N	0.356790	T	0.31389	0.0795	L	0.50333	1.59	0.25732	N	0.985255	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.21552	-1.0242	10	0.54805	T	0.06	-5.5342	14.2317	0.65898	0.0:0.851:0.149:0.0	.	791;608;749	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	C	608;749;750	ENSP00000383428:S608C;ENSP00000383417:S749C;ENSP00000262608:S750C	ENSP00000262608:S750C	S	+	2	0	CECR2	16402144	0.993000	0.37304	0.996000	0.52242	0.828000	0.46876	2.747000	0.47475	1.428000	0.47296	0.561000	0.74099	TCT		0.582	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2		NM_031413		7	43	0	0	0	0.001984	0	7	43		
SERPIND1	3053	broad.mit.edu	37	22	21140347	21140347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:21140347G>T	ENST00000215727.5	+	4	1502	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.E407*|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	407					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E407*(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|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;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CAATCTAGTGGAGTCCCTGAA	0.483																																						uc002ztb.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(1219-1221)GAG>TAG		heparin cofactor II precursor	Ardeparin(DB00407)						187.0	172.0	177.0					22																	21140347		2203	4300	6503	SO:0001587	stop_gained	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21140347G>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1219G>T	22.37:g.21140347G>T	ENSP00000215727:p.Glu407*					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.E435*	p.E407*	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		4	1286	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	407					B2RAI1|D3DX34|Q6IBZ5	Nonsense_Mutation	SNP	ENST00000215727.5	37	c.1219G>T	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	37	6.196150	0.97367	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	.	.	.	5.28	4.26	0.50523	.	0.346134	0.33916	N	0.004427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	13.7528	0.62917	0.0735:0.0:0.9265:0.0	.	.	.	.	X	407	.	ENSP00000215727:E407X	E	+	1	0	SERPIND1	19470347	0.784000	0.28713	1.000000	0.80357	0.897000	0.52465	2.725000	0.47294	1.460000	0.47911	0.655000	0.94253	GAG		0.483	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		NM_000185		15	198	1	0	6.31663e-08	0.003163	6.78064e-08	15	198		
TFIP11	24144	broad.mit.edu	37	22	26894901	26894901	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:26894901C>A	ENST00000407690.1	-	10	1653	c.1370G>T	c.(1369-1371)aGc>aTc	p.S457I	TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407431.1_Missense_Mutation_p.S457I|TFIP11_ENST00000407148.1_Missense_Mutation_p.S457I|TFIP11_ENST00000405938.1_Missense_Mutation_p.S457I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	457					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.S457I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCTAGGAGGCTTTTCCACTT	0.572																																						uc003acr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1369-1371)AGC>ATC		tuftelin interacting protein 11							180.0	172.0	175.0					22																	26894901		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26894901C>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1370G>T	22.37:g.26894901C>A	ENSP00000384421:p.Ser457Ile					TFIP11_uc003acs.2_Missense_Mutation_p.S457I|TFIP11_uc003act.2_Missense_Mutation_p.S457I	p.S457I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			9	1744	-			457					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1370G>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910343	0.52439	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.29	4.27	0.50696	GC-rich sequence DNA-binding factor domain (1);	0.269780	0.42821	D	0.000652	T	0.39600	0.1084	L	0.52011	1.625	0.39469	D	0.967692	P	0.39717	0.684	B	0.42798	0.398	T	0.32929	-0.9888	10	0.42905	T	0.14	-20.4512	8.8357	0.35111	0.0:0.7703:0.1518:0.078	.	457	Q9UBB9	TFP11_HUMAN	I	457;457;457;142;457	ENSP00000384421:S457I;ENSP00000383892:S457I;ENSP00000385861:S457I;ENSP00000384297:S457I	ENSP00000384297:S457I	S	-	2	0	TFIP11	25224901	0.383000	0.25156	0.994000	0.49952	0.988000	0.76386	0.067000	0.14510	1.443000	0.47586	0.655000	0.94253	AGC		0.572	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1		NM_001008697		10	253	1	0	7.48243e-07	0.006214	7.9942e-07	10	253		
SEC14L2	23541	broad.mit.edu	37	22	30806616	30806616	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:30806616C>G	ENST00000312932.9	+	8	872	c.612C>G	c.(610-612)ctC>ctG	p.L204L	RP4-539M6.19_ENST00000439838.1_Silent_p.L38L|SEC14L2_ENST00000405717.3_Silent_p.L204L|SEC14L2_ENST00000402592.3_Silent_p.L121L|SEC14L2_ENST00000403484.1_Silent_p.L130L	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.L204L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CCTATAACCTCATCAAACCCT	0.527																																						uc003ahr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(610-612)CTC>CTG		SEC14-like 2 isoform 1	Vitamin E(DB00163)						160.0	131.0	141.0					22																	30806616		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30806616C>G	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.612C>G	22.37:g.30806616C>G						SEC14L2_uc003ahq.2_Silent_p.L204L|SEC14L2_uc011akx.1_Silent_p.L150L|SEC14L2_uc003ahs.2_Silent_p.L130L|SEC14L2_uc011aky.1_Silent_p.L121L|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Silent_p.L28L|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_RNA|MTP18_uc010gvx.1_5'UTR|MTP18_uc003ahv.1_Silent_p.L28L|MTP18_uc010gvy.1_Silent_p.L28L	p.L204L	NM_012429	NP_036561	O76054	S14L2_HUMAN			8	785	+			204			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	37	c.612C>G	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	C	9.036	0.988408	0.18966	.	.	ENSG00000249590	ENST00000439023	.	.	.	5.12	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5763	0.22569	0.0:0.4347:0.4003:0.1649	.	.	.	.	X	32	.	.	S	+	2	0	RP4-539M6.19	29136616	0.018000	0.18449	1.000000	0.80357	0.994000	0.84299	-0.800000	0.04555	0.719000	0.32188	-0.136000	0.14681	TCA		0.527	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4		NM_012429		3	133	0	0	0	0.009096	0	3	133		
CYP2D6	1565	broad.mit.edu	37	22	42523515	42523515	+	Silent	SNP	G	G	A	rs149686350		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42523515G>A	ENST00000360608.5	-	7	1221	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.I369I|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.I318I	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	369			I -> T (in allele CYP2D6*26).		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.I318I(1)|p.I369I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCAGGGGGACGATGTCCCCAA	0.612																																						uc003bce.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)|skin(1)	2						c.(1105-1107)ATC>ATT		cytochrome P450, family 2, subfamily D,		G	,	0,4402		0,0,2201	94.0	78.0	84.0		1107,954	-0.9	0.1	22	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CYP2D6	NM_000106.4,NM_001025161.1	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	369/498,318/447	42523515	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523515G>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1107C>T	22.37:g.42523515G>A						uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Silent_p.I63I|CYP2D6_uc003bcf.2_Silent_p.I318I	p.I369I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			7	1197	-			369					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.1107C>T	CCDS46721.1																																																																																				0.612	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1				4	41	0	0	0	0.000602	0	4	41		
KIAA0930	23313	broad.mit.edu	37	22	45593787	45593787	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:45593787G>A	ENST00000336156.5	-	9	1123	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Missense_Mutation_p.S335L|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S358L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S319L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	353								p.S358L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCCTGTGCCCGACAGGGACCG	0.607																																						uc003bfx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1057-1059)TCG>TTG		hypothetical protein LOC23313 isoform b							149.0	132.0	138.0					22																	45593787		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45593787G>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.1058C>T	22.37:g.45593787G>A	ENSP00000336720:p.Ser353Leu					C22orf9_uc010gzw.1_Missense_Mutation_p.S205L|C22orf9_uc003bfv.1_Missense_Mutation_p.S362L|C22orf9_uc003bfw.1_Missense_Mutation_p.S358L|C22orf9_uc010gzx.2_Missense_Mutation_p.S335L	p.S353L	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	9	1124	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	353					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.1058C>T	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343446	0.95783	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;0.999	D;D;D;D	0.72625	0.968;0.978;0.966;0.978	T	0.79836	-0.1635	9	0.62326	D	0.03	-17.4899	19.0636	0.93101	0.0:0.0:1.0:0.0	.	335;353;358;424	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	L	353;238;358;319;335	.	ENSP00000251993:S358L	S	-	2	0	KIAA0930	43972451	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	9.213000	0.95133	2.501000	0.84356	0.561000	0.74099	TCG		0.607	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2		NM_001009880		13	91	0	0	0	0.00245	0	13	91		
CNTN6	27255	broad.mit.edu	37	3	1418703	1418703	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:1418703C>T	ENST00000446702.2	+	17	2737	c.2110C>T	c.(2110-2112)Cca>Tca	p.P704S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P704S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P632S			Q9UQ52	CNTN6_HUMAN	contactin 6	704	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P704S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTTGTGGCACCAGTAAACAT	0.378																																						uc003boz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2110-2112)CCA>TCA		contactin 6 precursor							193.0	183.0	186.0					3																	1418703		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418703C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2110C>T	3.37:g.1418703C>T	ENSP00000407822:p.Pro704Ser					CNTN6_uc011asj.1_Missense_Mutation_p.P632S|CNTN6_uc003bpa.2_Missense_Mutation_p.P704S	p.P704S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2377	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	704			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2110C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626493	0.87560	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.63417	-0.04;-0.04;-0.04	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	D	0.86802	0.6020	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90314	0.4339	10	0.87932	D	0	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	704	Q9UQ52	CNTN6_HUMAN	S	704;632;704	ENSP00000407822:P704S;ENSP00000442791:P632S;ENSP00000341882:P704S	ENSP00000341882:P704S	P	+	1	0	CNTN6	1393703	1.000000	0.71417	0.981000	0.43875	0.902000	0.53008	6.999000	0.76283	2.713000	0.92767	0.655000	0.94253	CCA		0.378	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461		8	211	0	0	0	0.004482	0	8	211		
HRH1	3269	broad.mit.edu	37	3	11301597	11301597	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:11301597G>A	ENST00000397056.1	+	3	1065	c.874G>A	c.(874-876)Gag>Aag	p.E292K	HRH1_ENST00000438284.2_Missense_Mutation_p.E292K|HRH1_ENST00000431010.2_Missense_Mutation_p.E292K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	292					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.E292K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTCAGCCAAGAGGATGATAG	0.493																																						uc010hdr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(874-876)GAG>AAG		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						65.0	71.0	69.0					3																	11301597		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301597G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.874G>A	3.37:g.11301597G>A	ENSP00000380247:p.Glu292Lys					HRH1_uc010hds.2_Missense_Mutation_p.E292K|HRH1_uc010hdt.2_Missense_Mutation_p.E292K|HRH1_uc003bwb.3_Missense_Mutation_p.E292K	p.E292K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	1216	+			292			Cytoplasmic (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.874G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	1.295	-0.606421	0.03717	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.66280	-0.2;-0.2;-0.2	5.96	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.816821	0.11399	N	0.568078	T	0.59074	0.2167	M	0.74647	2.275	0.09310	N	1	B	0.32653	0.379	B	0.34385	0.181	T	0.49716	-0.8910	10	0.07813	T	0.8	-6.8601	9.8486	0.41043	0.0:0.2859:0.5657:0.1483	.	292	P35367	HRH1_HUMAN	K	292	ENSP00000406705:E292K;ENSP00000397028:E292K;ENSP00000380247:E292K	ENSP00000380247:E292K	E	+	1	0	HRH1	11276597	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.617000	0.24359	0.826000	0.34661	0.650000	0.86243	GAG		0.493	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2				8	127	0	0	0	0.00308	0	8	127		
IQSEC1	9922	broad.mit.edu	37	3	12977699	12977699	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:12977699C>T	ENST00000273221.4	-	3	1075	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	287					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G287S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTCCATGCCGTGCAGGGCT	0.662																																						uc003bxt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(859-861)GGC>AGC		IQ motif and Sec7 domain 1 isoform b							68.0	70.0	69.0					3																	12977699		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977699C>T	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.859G>A	3.37:g.12977699C>T	ENSP00000273221:p.Gly287Ser					IQSEC1_uc003bxu.3_Missense_Mutation_p.G165S|IQSEC1_uc011auw.1_Missense_Mutation_p.G273S	p.G287S	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			3	868	-			287					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.859G>A	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.680|8.680	0.904828|0.904828	0.17760|0.17760	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247|ENST00000450726	T;T|.	0.37915|.	1.17;1.17|.	4.86|4.86	-3.77|-3.77	0.04346|0.04346	.|.	2.553720|.	0.00918|.	N|.	0.002540|.	T|T	0.35653|0.35653	0.0939|0.0939	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|.	0.18968|.	0.01;0.032;0.0|.	B;B;B|.	0.10450|.	0.003;0.005;0.0|.	T|T	0.39272|0.39272	-0.9622|-0.9622	9|4	0.08837|.	T|.	0.75|.	.|.	13.2091|13.2091	0.59815|0.59815	0.0:0.3532:0.0:0.6468|0.0:0.3532:0.0:0.6468	.|.	273;273;287|.	E9PG60;C9JMG9;Q6DN90|.	.;.;IQEC1_HUMAN|.	S|Q	287;273;273|287	ENSP00000273221:G287S;ENSP00000402299:G273S|.	ENSP00000273221:G287S|.	G|R	-|-	1|2	0|0	IQSEC1|IQSEC1	12952699|12952699	0.014000|0.014000	0.17966|0.17966	0.001000|0.001000	0.08648|0.08648	0.877000|0.877000	0.50540|0.50540	0.337000|0.337000	0.19841|0.19841	-0.693000|-0.693000	0.05121|0.05121	-0.285000|-0.285000	0.09966|0.09966	GGC|CGG		0.662	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2		NM_014869		12	97	0	0	0	0.010729	0	12	97		
FGD5	152273	broad.mit.edu	37	3	14861786	14861786	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:14861786G>C	ENST00000285046.5	+	1	1318	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	FGD5_ENST00000543601.1_Missense_Mutation_p.G162A	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	403			G -> R (in dbSNP:rs7636593).		actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.G162A(1)|p.G403A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTACAGGGTGGAGCGGCCGAG	0.632																																						uc003bzc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1207-1209)GGA>GCA		FYVE, RhoGEF and PH domain containing 5							24.0	29.0	28.0					3																	14861786		2014	4155	6169	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861786G>C	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1208G>C	3.37:g.14861786G>C	ENSP00000285046:p.Gly403Ala					FGD5_uc011avk.1_Missense_Mutation_p.G403A	p.G403A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1318	+			403					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1208G>C	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	4.455	0.084299	0.08583	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75589	-0.95;-0.8	4.29	-2.46	0.06461	.	0.830779	0.10226	N	0.700296	T	0.51483	0.1677	L	0.29908	0.895	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.10450	0.003;0.005	T	0.31138	-0.9954	10	0.13470	T	0.59	-2.8782	1.5288	0.02531	0.2994:0.2804:0.2986:0.1216	.	162;403	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	A	403;162	ENSP00000285046:G403A;ENSP00000445949:G162A	ENSP00000285046:G403A	G	+	2	0	FGD5	14836790	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.423000	0.21313	-0.360000	0.08138	0.491000	0.48974	GGA		0.632	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536		3	27	0	0	0	0.004672	0	3	27		
SUSD5	26032	broad.mit.edu	37	3	33194715	33194715	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:33194715G>C	ENST00000309558.3	-	5	1826	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	470					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.S470*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGTAGAGTTGACTGGTACTT	0.517																																						uc003cfo.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1408-1410)TCA>TGA		sushi domain containing 5 precursor							101.0	102.0	102.0					3																	33194715		2005	4168	6173	SO:0001587	stop_gained	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194715G>C	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1409C>G	3.37:g.33194715G>C	ENSP00000308727:p.Ser470*						p.S470*	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1827	-			470			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000309558.3	37	c.1409C>G	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	37	6.129372	0.97310	.	.	ENSG00000173705	ENST00000309558	.	.	.	5.45	5.45	0.79879	.	0.643641	0.15020	N	0.285078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.8863	9.3344	0.38040	0.0788:0.1457:0.7755:0.0	.	.	.	.	X	470	.	ENSP00000308727:S470X	S	-	2	0	SUSD5	33169719	0.283000	0.24277	0.996000	0.52242	0.405000	0.30901	0.807000	0.27140	2.553000	0.86117	0.650000	0.86243	TCA		0.517	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1		XM_171054		3	61	0	0	0	0.004672	0	3	61		
TRANK1	9881	broad.mit.edu	37	3	36874809	36874809	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:36874809C>T	ENST00000429976.2	-	21	6380	c.6133G>A	c.(6133-6135)Gaa>Aaa	p.E2045K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E1495K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E1495K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2045							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E1495K(1)|p.E1488K(1)|p.E2045K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGAGGATTTCCAAGCCCCCT	0.532																																						uc003cgj.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)|central_nervous_system(1)	2						c.(4483-4485)GAA>AAA		lupus brain antigen 1							42.0	42.0	42.0					3																	36874809		1898	4138	6036	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874809C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6133G>A	3.37:g.36874809C>T	ENSP00000416168:p.Glu2045Lys						p.E1495K	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	4785	-			2045					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4483G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789690	0.31685	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32988	1.43;1.84;1.43	4.5	4.5	0.54988	.	0.597682	0.15014	N	0.285376	T	0.18882	0.0453	N	0.24115	0.695	0.26446	N	0.975686	B	0.26672	0.156	B	0.19666	0.026	T	0.05616	-1.0874	10	0.39692	T	0.17	.	7.6409	0.28292	0.0:0.7349:0.1698:0.0954	.	2045	O15050	TRNK1_HUMAN	K	1495;2045;1495	ENSP00000416826:E1495K;ENSP00000416168:E2045K;ENSP00000301807:E1495K	ENSP00000301807:E1495K	E	-	1	0	TRANK1	36849813	0.635000	0.27199	1.000000	0.80357	0.950000	0.60333	2.154000	0.42291	2.496000	0.84212	0.555000	0.69702	GAA		0.532	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014831		6	91	0	0	0	0.001984	0	6	91		
SETD2	29072	broad.mit.edu	37	3	47158213	47158213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:47158213G>A	ENST00000409792.3	-	4	4528	c.4486C>T	c.(4486-4488)Cga>Tga	p.R1496*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1496	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R993*(1)|p.R1496*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACTGCATTCGCTTAATATCT	0.313			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		urinary_tract(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4486-4488)CGA>TGA		SET domain containing 2							98.0	95.0	96.0					3																	47158213		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47158213G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4486C>T	3.37:g.47158213G>A	ENSP00000386759:p.Arg1496*					SETD2_uc003cqv.2_Nonsense_Mutation_p.R1485*	p.R1496*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	4	4539	-		Acute lymphoblastic leukemia(5;0.0169)	1496			AWS.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.4486C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	44	10.820623	0.99473	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.93	4.09	0.47781	.	0.000000	0.45867	D	0.000333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6894	0.69072	0.0:0.0:0.5054:0.4946	.	.	.	.	X	1496	.	ENSP00000386759:R1496X	R	-	1	2	SETD2	47133217	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.479000	0.35453	0.783000	0.33636	-0.282000	0.10007	CGA		0.313	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159		12	139	0	0	0	0.010729	0	12	139		
COL7A1	1294	broad.mit.edu	37	3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T	rs201011691		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:48609570C>T	ENST00000328333.8	-	90	7120	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2338	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R2338Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17445	0.0		0.001	False		,,,				2504	0.0					uc003ctz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(7012-7014)CGA>CAA		alpha 1 type VII collagen precursor							38.0	33.0	35.0					3																	48609570		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48609570C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7013G>A	3.37:g.48609570C>T	ENSP00000332371:p.Arg2338Gln						p.R2338Q	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	90	7014	-			2338			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.7013G>A	CCDS2773.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.23	1.875940	0.33162	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93307	-3.2;-3.2	6.07	6.07	0.98685	.	0.000000	0.42821	D	0.000651	D	0.91287	0.7253	N	0.16201	0.385	0.09310	N	1	D	0.76494	0.999	P	0.61275	0.886	D	0.83377	0.0010	10	0.22109	T	0.4	.	12.4372	0.55606	0.0:0.9178:0.0:0.0822	.	2338	Q02388	CO7A1_HUMAN	Q	2338;2306	ENSP00000332371:R2338Q;ENSP00000412569:R2306Q	ENSP00000332371:R2338Q	R	-	2	0	COL7A1	48584574	0.000000	0.05858	0.908000	0.35775	0.637000	0.38172	0.365000	0.20348	2.884000	0.98904	0.655000	0.94253	CGA		0.612	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		7	30	0	0	0	0.004482	0	7	30		
ZMYND10	51364	broad.mit.edu	37	3	50379109	50379109	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:50379109C>T	ENST00000231749.3	-	11	2415	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L	ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Silent_p.L376L|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	381	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.L381L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTAGCACATCCAGCCTGTAGG	0.612										TSP Lung(30;0.18)																												uc003dag.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|ovary(1)	5						c.(1141-1143)CTG>CTA		zinc finger, MYND domain-containing 10							46.0	50.0	49.0					3																	50379109		2203	4300	6503	SO:0001819	synonymous_variant	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379109C>T	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1143G>A	3.37:g.50379109C>T		TSP Lung(30;0.18)				RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.L376L	p.L381L	NM_015896	NP_056980	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	1289	-			381					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	c.1143G>A	CCDS2825.1																																																																																				0.612	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1		NM_015896		12	67	0	0	0	0.007413	0	12	67		
STAB1	23166	broad.mit.edu	37	3	52547984	52547984	+	Missense_Mutation	SNP	G	G	T	rs149300853		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:52547984G>T	ENST00000321725.6	+	32	3510	c.3434G>T	c.(3433-3435)cGg>cTg	p.R1145L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1145	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.R1145L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCCTCTTCCGGGAATTGCTG	0.652																																						uc003dej.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(3433-3435)CGG>CTG		stabilin 1 precursor							87.0	91.0	89.0					3																	52547984		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52547984G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3434G>T	3.37:g.52547984G>T	ENSP00000312946:p.Arg1145Leu						p.R1145L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	32	3508	+			1145			FAS1 4.|Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3434G>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073055	0.36566	.	.	ENSG00000010327	ENST00000321725	D	0.90133	-2.62	4.78	2.24	0.28232	FAS1 domain (4);	0.705336	0.13011	N	0.420838	D	0.88115	0.6350	M	0.70595	2.14	0.32710	N	0.511733	P	0.43024	0.798	B	0.43155	0.41	D	0.85239	0.1037	10	0.28530	T	0.3	-9.2772	4.8029	0.13305	0.4367:0.0:0.5633:0.0	.	1145	Q9NY15	STAB1_HUMAN	L	1145	ENSP00000312946:R1145L	ENSP00000312946:R1145L	R	+	2	0	STAB1	52523024	0.886000	0.30341	0.999000	0.59377	0.339000	0.28857	0.630000	0.24553	0.979000	0.38497	0.462000	0.41574	CGG		0.652	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		11	171	1	0	1.49906e-05	0.00245	1.57193e-05	11	171		
PDE12	201626	broad.mit.edu	37	3	57543244	57543244	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:57543244G>A	ENST00000311180.8	+	1	1241	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	PDE12_ENST00000487257.1_Missense_Mutation_p.E380K	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	380					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.E380K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAAGCAGCACGAAGGCCTGGC	0.537																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1138-1140)GAA>AAA		phosphodiesterase 12							48.0	49.0	49.0					3																	57543244		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57543244G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1138G>A	3.37:g.57543244G>A	ENSP00000309142:p.Glu380Lys					PDE12_uc003div.2_Missense_Mutation_p.E380K	p.E380K	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	1264	+			380					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1138G>A	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853497	0.91355	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.80738	-1.41;-1.41	5.56	4.68	0.58851	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92907	0.6344	10	0.72032	D	0.01	-10.0892	16.5399	0.84382	0.0:0.1306:0.8694:0.0	.	380;380	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	K	380	ENSP00000420626:E380K;ENSP00000309142:E380K	ENSP00000309142:E380K	E	+	1	0	PDE12	57518284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	1.352000	0.45808	0.655000	0.94253	GAA		0.537	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966		4	74	0	0	0	0.009096	0	4	74		
FLNB	2317	broad.mit.edu	37	3	57994493	57994493	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:57994493C>G	ENST00000295956.4	+	1	367	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	FLNB_ENST00000357272.4_Missense_Mutation_p.Q68E|FLNB_ENST00000429972.2_Missense_Mutation_p.Q68E|FLNB_ENST00000348383.5_Missense_Mutation_p.Q68E|FLNB_ENST00000358537.3_Missense_Mutation_p.Q68E|FLNB_ENST00000490882.1_Missense_Mutation_p.Q68E	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	68	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.Q68E(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAAGTACCATCAGCGGCCCAC	0.617																																						uc003djj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(202-204)CAG>GAG		filamin B isoform 2							131.0	129.0	129.0					3																	57994493		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:57994493C>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.202C>G	3.37:g.57994493C>G	ENSP00000295956:p.Gln68Glu					FLNB_uc010hne.2_Missense_Mutation_p.Q68E|FLNB_uc003djk.2_Missense_Mutation_p.Q68E|FLNB_uc010hnf.2_Missense_Mutation_p.Q68E	p.Q68E	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	1	367	+			68			Actin-binding.|CH 1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.202C>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971849	0.74246	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	5.52	5.52	0.82312	Calponin homology domain (5);	0.068836	0.64402	D	0.000012	D	0.89504	0.6734	N	0.11106	0.095	0.80722	D	1	B;B;B;B	0.22146	0.052;0.065;0.064;0.064	B;B;B;B	0.28553	0.027;0.091;0.045;0.045	D	0.85059	0.0933	10	0.38643	T	0.18	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	68;68;68;68	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	E	68	ENSP00000295956:Q68E;ENSP00000420213:Q68E;ENSP00000351339:Q68E;ENSP00000415599:Q68E;ENSP00000232447:Q68E;ENSP00000349819:Q68E	ENSP00000295956:Q68E	Q	+	1	0	FLNB	57969533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.825000	0.55730	2.614000	0.88457	0.585000	0.79938	CAG		0.617	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457		5	124	0	0	0	0.001168	0	5	124		
PXK	54899	broad.mit.edu	37	3	58377546	58377546	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:58377546G>A	ENST00000356151.2	+	7	696	c.587G>A	c.(586-588)tGt>tAt	p.C196Y	PXK_ENST00000383716.3_Missense_Mutation_p.C163Y|PXK_ENST00000479241.1_Missense_Mutation_p.C179Y|PXK_ENST00000302779.5_Missense_Mutation_p.C179Y|PXK_ENST00000484288.1_Missense_Mutation_p.C196Y|PXK_ENST00000383715.4_Missense_Mutation_p.C179Y|PXK_ENST00000536660.1_Missense_Mutation_p.C59Y|PXK_ENST00000463280.1_Missense_Mutation_p.C163Y	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.C196Y(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTCAGTGTCTAATCAAA	0.383																																						uc003djz.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(586-588)TGT>TAT		PX domain containing serine/threonine kinase							195.0	184.0	188.0					3																	58377546		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58377546G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.587G>A	3.37:g.58377546G>A	ENSP00000348472:p.Cys196Tyr					PXK_uc003djx.1_Missense_Mutation_p.C196Y|PXK_uc003djy.1_Missense_Mutation_p.C179Y|PXK_uc003dka.1_Missense_Mutation_p.C196Y|PXK_uc003dkb.1_Missense_Mutation_p.C113Y|PXK_uc003dkc.1_Missense_Mutation_p.C179Y|PXK_uc011bfe.1_Missense_Mutation_p.C163Y|PXK_uc010hnj.1_Missense_Mutation_p.C163Y|PXK_uc003dkd.1_Missense_Mutation_p.C59Y|PXK_uc010hnk.1_Intron	p.C196Y	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	7	686	+			196			Protein kinase.			Missense_Mutation	SNP	ENST00000356151.2	37	c.587G>A	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	2.580	-0.297582	0.05532	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T;T;T;T;T;T;T;T	0.29917	2.32;2.32;2.32;1.58;1.58;1.58;1.55;2.32	5.66	4.79	0.61399	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.209012	0.52532	D	0.000080	T	0.24005	0.0581	L	0.34521	1.04	0.38888	D	0.957041	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.001	B;B;B;B;B;B	0.09377	0.001;0.001;0.001;0.004;0.002;0.002	T	0.05533	-1.0879	10	0.42905	T	0.14	-1.5349	11.5858	0.50918	0.1543:0.0:0.8457:0.0	.	163;163;163;196;179;196	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	Y	196;179;163;163;179;196;179;59;59	ENSP00000348472:C196Y;ENSP00000305045:C179Y;ENSP00000373222:C163Y;ENSP00000417903:C163Y;ENSP00000373221:C179Y;ENSP00000417915:C196Y;ENSP00000419049:C179Y;ENSP00000438356:C59Y	ENSP00000305045:C179Y	C	+	2	0	PXK	58352586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.477000	0.53151	1.400000	0.46741	0.563000	0.77884	TGT		0.383	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1		NM_017771		20	233	0	0	0	0.014323	0	20	233		
ACOX2	8309	broad.mit.edu	37	3	58508267	58508267	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:58508267C>T	ENST00000302819.5	-	12	1879	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E516K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	530					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.E530K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTCCAAGCCTCGTGCTGGTCA	0.532																																						uc003dkl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1588-1590)GAG>AAG		acyl-Coenzyme A oxidase 2							133.0	114.0	121.0					3																	58508267		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58508267C>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1588G>A	3.37:g.58508267C>T	ENSP00000307697:p.Glu530Lys						p.E530K	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	12	1763	-			530					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1588G>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266684	0.59540	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.47177	0.85;0.85	4.81	4.81	0.61882	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.530335	0.18304	N	0.145312	T	0.57110	0.2031	M	0.74258	2.255	0.42160	D	0.991596	P	0.43633	0.813	P	0.46253	0.509	T	0.56056	-0.8042	10	0.23302	T	0.38	-46.3163	18.7887	0.91965	0.0:1.0:0.0:0.0	.	530	Q99424	ACOX2_HUMAN	K	516;530	ENSP00000418562:E516K;ENSP00000307697:E530K	ENSP00000307697:E530K	E	-	1	0	ACOX2	58483307	0.144000	0.22641	0.786000	0.31890	0.974000	0.67602	3.474000	0.53129	2.605000	0.88082	0.655000	0.94253	GAG		0.532	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1				23	75	0	0	0	0.005443	0	23	75		
ATXN7	6314	broad.mit.edu	37	3	63938123	63938123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:63938123C>T	ENST00000295900.6	+	5	1013	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ATXN7_ENST00000398590.3_Nonsense_Mutation_p.Q155*|ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q155*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q155*	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	155					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q155*(4)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGACTGTAATCAGGTTGTCAA	0.373																																						uc003dlw.3		NaN																	4	Substitution - Nonsense(4)		urinary_tract(2)|lung(2)		0						c.(463-465)CAG>TAG		ataxin 7 isoform a							210.0	191.0	197.0					3																	63938123		1916	4133	6049	SO:0001587	stop_gained	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63938123C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.463C>T	3.37:g.63938123C>T	ENSP00000295900:p.Gln155*					ATXN7_uc003dlv.2_Nonsense_Mutation_p.Q155*|ATXN7_uc010hnv.2_Nonsense_Mutation_p.Q155*	p.Q155*	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	5	1016	+		Prostate(884;0.0181)	155					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Nonsense_Mutation	SNP	ENST00000295900.6	37	c.463C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	42	9.621371	0.99221	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065	.	.	.	5.35	5.35	0.76521	.	0.060259	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.696	19.4212	0.94721	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000295900:Q155X	Q	+	1	0	ATXN7	63913163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.715000	0.84713	2.674000	0.91012	0.467000	0.42956	CAG		0.373	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1		NM_000333		14	175	0	0	0	0.00245	0	14	175		
ATXN7	6314	broad.mit.edu	37	3	63975994	63975994	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:63975994G>A	ENST00000295900.6	+	10	2054	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	ATXN7_ENST00000484332.1_Missense_Mutation_p.E357K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E502K|ATXN7_ENST00000487717.1_Missense_Mutation_p.E502K|ATXN7_ENST00000398590.3_Missense_Mutation_p.E502K	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	502					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E502K(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGACAAAGAAGAGTCTGTTGA	0.552																																						uc003dlw.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1504-1506)GAG>AAG		ataxin 7 isoform a							105.0	112.0	110.0					3																	63975994		2050	4196	6246	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63975994G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1504G>A	3.37:g.63975994G>A	ENSP00000295900:p.Glu502Lys					ATXN7_uc003dlv.2_Missense_Mutation_p.E502K|ATXN7_uc010hnv.2_Missense_Mutation_p.E502K|ATXN7_uc011bfn.1_Missense_Mutation_p.E357K	p.E502K	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	10	2057	+		Prostate(884;0.0181)	502					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.1504G>A	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883419	0.97062	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.91	5.91	0.95273	.	0.165282	0.56097	D	0.000035	T	0.72003	0.3407	M	0.77820	2.39	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	P;D;D	0.81914	0.877;0.942;0.995	T	0.73232	-0.4048	10	0.72032	D	0.01	-16.3957	20.3052	0.98627	0.0:0.0:1.0:0.0	.	357;502;502	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	K	502;502;502;502;357	ENSP00000381590:E502K;ENSP00000295900:E502K;ENSP00000420234:E502K;ENSP00000439585:E502K;ENSP00000428277:E357K	ENSP00000295900:E502K	E	+	1	0	ATXN7	63951034	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAG		0.552	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1		NM_000333		5	103	0	0	0	0.001168	0	5	103		
EOGT	285203	broad.mit.edu	37	3	69027583	69027583	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:69027583G>A	ENST00000383701.3	-	17	2080	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	EOGT_ENST00000540764.1_Silent_p.Y345Y|EOGT_ENST00000540955.1_Silent_p.Y170Y|EOGT_ENST00000295571.5_Silent_p.Y362Y	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	446					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)	p.Y362Y(1)									CTTCACAGTTGTACCTAAGGA	0.453																																						uc003dnl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1336-1338)TAC>TAT		AER61 glycosyltransferase							116.0	100.0	105.0					3																	69027583		2203	4300	6503	SO:0001819	synonymous_variant	285203					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:69027583G>A	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1338C>T	3.37:g.69027583G>A						C3orf64_uc003dnj.2_Silent_p.Y125Y|C3orf64_uc003dnk.2_Silent_p.Y362Y|C3orf64_uc011bfw.1_RNA	p.Y446Y	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)	17	1743	-		Lung NSC(201;0.126)	446					A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.1338C>T																																																																																					0.453	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1		NM_173654		12	138	0	0	0	0.010729	0	12	138		
FOXP1	27086	broad.mit.edu	37	3	71050197	71050197	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:71050197C>G	ENST00000318789.4	-	13	1513	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	FOXP1_ENST00000475937.1_Missense_Mutation_p.E330Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.E254Q|FOXP1_ENST00000493089.1_Missense_Mutation_p.E330Q|FOXP1_ENST00000498215.1_Missense_Mutation_p.E330Q|FOXP1_ENST00000491238.1_Missense_Mutation_p.E332Q|FOXP1_ENST00000468577.1_Missense_Mutation_p.E330Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	330					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E330Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCGCATGCTCACTGTTGAGA	0.353			T	PAX5	ALL																																	uc003dol.2		NaN		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(988-990)GAG>CAG		forkhead box P1 isoform 1							134.0	114.0	121.0					3																	71050197		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71050197C>G	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.988G>C	3.37:g.71050197C>G	ENSP00000318902:p.Glu330Gln					FOXP1_uc003dom.2_Missense_Mutation_p.E254Q|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.E330Q|FOXP1_uc003dop.2_Missense_Mutation_p.E330Q|FOXP1_uc003doq.1_Missense_Mutation_p.E329Q|FOXP1_uc003doi.2_Missense_Mutation_p.E230Q|FOXP1_uc003doj.2_Missense_Mutation_p.E230Q|FOXP1_uc003dok.2_Missense_Mutation_p.E143Q|FOXP1_uc003dor.1_Missense_Mutation_p.E108Q	p.E330Q	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	9	1311	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	330			C2H2-type.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.988G>C	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943759	0.92593	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.971;0.996;0.997	D;D;P;D;P	0.77557	0.942;0.99;0.895;0.954;0.885	T	0.68315	-0.5441	10	0.87932	D	0	.	19.904	0.97001	0.0:1.0:0.0:0.0	.	330;329;330;254;330	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	Q	330;142;230;330;330;226;332;330;330;254;330	ENSP00000318902:E330Q;ENSP00000419393:E330Q;ENSP00000418225:E226Q;ENSP00000420736:E332Q;ENSP00000418524:E330Q;ENSP00000418102:E330Q;ENSP00000417857:E254Q;ENSP00000418883:E330Q	ENSP00000318902:E330Q	E	-	1	0	FOXP1	71132887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.689000	0.91719	0.655000	0.94253	GAG		0.353	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1		NM_032682		9	123	0	0	0	0.008291	0	9	123		
OR5K1	26339	broad.mit.edu	37	3	98188798	98188798	+	Silent	SNP	A	A	C	rs112214721	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:98188798A>C	ENST00000332650.5	+	1	475	c.378A>C	c.(376-378)atA>atC	p.I126I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTGGCCATATGCAACCCAC	0.468													C|||	18	0.00359425	0.0091	0.0043	5008	,	,		19817	0.001		0.002	False		,,,				2504	0.0					uc003dsm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(376-378)ATA>ATC		olfactory receptor, family 5, subfamily K,		C		41,4363	822.1+/-416.4	0,41,2161	126.0	126.0	126.0		378	-7.6	0.6	3	dbSNP_132	126	5,8595	818.3+/-406.9	0,5,4295	no	coding-synonymous	OR5K1	NM_001004736.2		0,46,6456	CC,CA,AA		0.0581,0.931,0.3537		126/309	98188798	46,12958	2202	4300	6502	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188798A>C	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.378A>C	3.37:g.98188798A>C							p.I126I	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	378	+			126			Cytoplasmic (Potential).		B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.378A>C	CCDS43115.1																																																																																				0.468	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1				31	247	0	0	0	0.009535	0	31	247		
OR5K2	402135	broad.mit.edu	37	3	98216586	98216586	+	Missense_Mutation	SNP	C	C	T	rs143260385	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:98216586C>T	ENST00000427338.1	+	1	139	c.62C>T	c.(61-63)cCt>cTt	p.P21L		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P21L(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGATCACCCTGAGCTGAAG	0.413																																						uc011bgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(61-63)CCT>CTT		olfactory receptor, family 5, subfamily K,							94.0	95.0	95.0					3																	98216586		2203	4297	6500	SO:0001583	missense	402135				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98216586C>T	AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.62C>T	3.37:g.98216586C>T	ENSP00000393889:p.Pro21Leu						p.P21L	NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN			1	62	+			21			Extracellular (Potential).		B2RN70|Q6IF47	Missense_Mutation	SNP	ENST00000427338.1	37	c.62C>T	CCDS33804.1	.	.	.	.	.	.	.	.	.	.	C	7.217	0.596570	0.13875	.	.	ENSG00000231861	ENST00000427338	T	0.20200	2.09	2.91	2.91	0.33838	.	0.000000	0.41294	D	0.000912	T	0.23094	0.0558	M	0.64080	1.96	0.32569	N	0.530032	B	0.21309	0.054	B	0.24394	0.053	T	0.30822	-0.9965	10	0.51188	T	0.08	-9.1222	12.101	0.53783	0.0:1.0:0.0:0.0	.	21	Q8NHB8	OR5K2_HUMAN	L	21	ENSP00000393889:P21L	ENSP00000393889:P21L	P	+	2	0	OR5K2	99699276	0.000000	0.05858	0.913000	0.36048	0.263000	0.26337	0.179000	0.16840	1.940000	0.56252	0.298000	0.19748	CCT		0.413	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359020.2				14	256	0	0	0	0.00245	0	14	256		
MYH15	22989	broad.mit.edu	37	3	108129603	108129603	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:108129603G>C	ENST00000273353.3	-	32	4438	c.4382C>G	c.(4381-4383)tCt>tGt	p.S1461C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1461						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1461C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCCTTGCCAGACTGCAGCTG	0.632																																						uc003dxa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(2)	7						c.(4381-4383)TCT>TGT		myosin, heavy polypeptide 15							40.0	42.0	41.0					3																	108129603		2039	4199	6238	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108129603G>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4382C>G	3.37:g.108129603G>C	ENSP00000273353:p.Ser1461Cys						p.S1461C	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			32	4439	-			1461			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.4382C>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324065	0.41096	.	.	ENSG00000144821	ENST00000273353	T	0.77877	-1.13	5.39	-0.541	0.11858	Myosin tail (1);	.	.	.	.	T	0.76608	0.4011	L	0.43152	1.355	0.24976	N	0.991636	P	0.51653	0.947	P	0.56343	0.796	T	0.65586	-0.6132	9	0.87932	D	0	.	5.5627	0.17152	0.3933:0.1614:0.4452:0.0	.	1461	Q9Y2K3	MYH15_HUMAN	C	1461	ENSP00000273353:S1461C	ENSP00000273353:S1461C	S	-	2	0	MYH15	109612293	0.986000	0.35501	0.000000	0.03702	0.233000	0.25261	2.789000	0.47813	-0.098000	0.12285	0.561000	0.74099	TCT		0.632	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		5	67	0	0	0	0.001168	0	5	67		
DPPA4	55211	broad.mit.edu	37	3	109050829	109050829	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:109050829C>T	ENST00000335658.6	-	3	282	c.228G>A	c.(226-228)caG>caA	p.Q76Q	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	76					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q76Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTATCTTCTTCTGAGGTCTGG	0.458																																						uc003dxq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(226-228)CAG>CAA		developmental pluripotency associated 4							186.0	183.0	184.0					3																	109050829		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109050829C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.228G>A	3.37:g.109050829C>T						DPPA4_uc011bho.1_Silent_p.Q76Q|DPPA4_uc011bhp.1_Silent_p.Q76Q	p.Q76Q	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			3	283	-			76					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.228G>A	CCDS33814.1																																																																																				0.458	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1		NM_018189		35	228	0	0	0	0.004289	0	35	228		
GOLGB1	2804	broad.mit.edu	37	3	121412961	121412961	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:121412961C>G	ENST00000340645.5	-	13	6519	c.6394G>C	c.(6394-6396)Gag>Cag	p.E2132Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2137Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2132					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2132Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGTGCTTCTCTTCTGCCTGT	0.398																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(6394-6396)GAG>CAG		golgi autoantigen, golgin subfamily b,							207.0	212.0	210.0					3																	121412961		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121412961C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6394G>C	3.37:g.121412961C>G	ENSP00000341848:p.Glu2132Gln					GOLGB1_uc010hrc.2_Missense_Mutation_p.E2137Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E2098Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E2018Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E2096Q	p.E2132Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6520	-			2132			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6394G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668657	0.29604	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14893	2.47;2.47	5.75	3.96	0.45880	.	0.266703	0.28403	N	0.015480	T	0.22399	0.0540	L	0.60455	1.87	0.28310	N	0.922711	P;P;P;P	0.49961	0.779;0.93;0.882;0.813	P;P;P;B	0.49226	0.447;0.603;0.447;0.353	T	0.05007	-1.0912	10	0.27785	T	0.31	.	9.593	0.39557	0.0:0.8333:0.0:0.1667	.	2057;2137;2137;2132	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Q	2132;2137	ENSP00000341848:E2132Q;ENSP00000377275:E2137Q	ENSP00000341848:E2132Q	E	-	1	0	GOLGB1	122895651	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.681000	0.46926	1.435000	0.47434	0.655000	0.94253	GAG		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		72	577	0	0	0	0.01441	0	72	577		
GOLGB1	2804	broad.mit.edu	37	3	121413280	121413280	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:121413280C>T	ENST00000340645.5	-	13	6200	c.6075G>A	c.(6073-6075)caG>caA	p.Q2025Q	GOLGB1_ENST00000393667.3_Silent_p.Q2030Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2025					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q2025Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGTCCTTCTGTAGCTGCT	0.358																																						uc003eei.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(6073-6075)CAG>CAA		golgi autoantigen, golgin subfamily b,							137.0	138.0	138.0					3																	121413280		2203	4299	6502	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413280C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6075G>A	3.37:g.121413280C>T						GOLGB1_uc010hrc.2_Silent_p.Q2030Q|GOLGB1_uc003eej.3_Silent_p.Q1991Q|GOLGB1_uc011bjm.1_Silent_p.Q1911Q|GOLGB1_uc010hrd.1_Silent_p.Q1989Q	p.Q2025Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6201	-			2025			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.6075G>A	CCDS3004.1																																																																																				0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		31	363	0	0	0	0.009535	0	31	363		
KPNA1	3836	broad.mit.edu	37	3	122186201	122186201	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:122186201C>T	ENST00000344337.6	-	3	381	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	69					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.E69K(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATCTGAGCCTCATGAAAGCCT	0.363																																					Melanoma(12;340 801 11196 19797)	uc003efd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(205-207)GAG>AAG		karyopherin alpha 1							158.0	147.0	151.0					3																	122186201		2202	4300	6502	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122186201C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.205G>A	3.37:g.122186201C>T	ENSP00000343701:p.Glu69Lys					KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.E69K	p.E69K	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	3	241	-			69					D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.205G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806644	0.50421	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.56	4.56	0.56223	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.585977	0.16528	N	0.210519	T	0.28067	0.0692	L	0.37561	1.115	0.58432	D	0.999999	B	0.26318	0.146	B	0.32928	0.155	T	0.04946	-1.0916	10	0.20519	T	0.43	-5.6528	14.8756	0.70491	0.0:1.0:0.0:0.0	.	69	P52294	IMA1_HUMAN	K	69	ENSP00000343701:E69K;ENSP00000419890:E69K;ENSP00000417166:E69K;ENSP00000417319:E69K;ENSP00000419257:E69K	ENSP00000343701:E69K	E	-	1	0	KPNA1	123668891	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.911000	0.69939	2.356000	0.79943	0.467000	0.42956	GAG		0.363	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1		NM_002264		8	95	0	0	0	0.00308	0	8	95		
PDIA5	10954	broad.mit.edu	37	3	122811201	122811201	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:122811201G>A	ENST00000316218.7	+	3	264		c.e3-1			NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTTTTTTACAGAGGTGGCAGC	0.502																																						uc003egc.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(1)	1						c.e3-1		protein disulfide isomerase A5 precursor							77.0	75.0	76.0					3																	122811201		2203	4300	6503	SO:0001630	splice_region_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122811201G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.170-1G>A	3.37:g.122811201G>A						PDIA5_uc003egd.1_Splice_Site	p.E57_splice	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	3	226	+								D3DN95|Q9BV43	Splice_Site	SNP	ENST00000316218.7	37	c.170_splice	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301256	0.60195	.	.	ENSG00000065485	ENST00000316218	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3934	0.60836	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDIA5	124293891	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.910000	0.56371	2.537000	0.85549	0.561000	0.74099	.		0.502	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1		NM_006810	Intron	10	104	0	0	0	0.006214	0	10	104		
PLSCR5	389158	broad.mit.edu	37	3	146311797	146311797	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:146311797C>T	ENST00000443512.1	-	4	1366	c.363G>A	c.(361-363)ctG>ctA	p.L121L	PLSCR5_ENST00000492200.1_Silent_p.L121L|PLSCR5_ENST00000482567.1_Silent_p.L109L	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	121								p.L121L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTGTGATCCTCAGGGTGCAAG	0.453																																						uc003ewb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(361-363)CTG>CTA		phospholipid scramblase family, member 5							136.0	135.0	135.0					3																	146311797		1950	4150	6100	SO:0001819	synonymous_variant	389158							g.chr3:146311797C>T	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.363G>A	3.37:g.146311797C>T						PLSCR5_uc010hvb.2_Silent_p.L109L|PLSCR5_uc010hvc.2_Silent_p.L121L	p.L121L	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			4	1367	-			121					B2RXK5	Silent	SNP	ENST00000443512.1	37	c.363G>A	CCDS46931.1																																																																																				0.453	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1		XM_371670		11	223	0	0	0	0.008291	0	11	223		
SAMD7	344658	broad.mit.edu	37	3	169644760	169644760	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:169644760C>T	ENST00000428432.2	+	6	1099	c.710C>T	c.(709-711)tCa>tTa	p.S237L	SAMD7_ENST00000335556.3_Missense_Mutation_p.S237L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	237								p.S237L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AACCAGAAGTCAAGTGAAACG	0.498																																						uc003fgd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(709-711)TCA>TTA		sterile alpha motif domain containing 7							112.0	110.0	111.0					3																	169644760		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644760C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.710C>T	3.37:g.169644760C>T	ENSP00000391299:p.Ser237Leu					SAMD7_uc003fge.2_Missense_Mutation_p.S237L|SAMD7_uc011bpo.1_Missense_Mutation_p.S138L	p.S237L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	977	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		237						Missense_Mutation	SNP	ENST00000428432.2	37	c.710C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346751	0.24426	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.42900	0.96;0.96	6.02	4.2	0.49525	.	0.635554	0.16924	N	0.193952	T	0.21267	0.0512	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.08743	-1.0707	10	0.30078	T	0.28	-1.9066	4.6891	0.12772	0.2907:0.5359:0.0:0.1734	.	237	Q7Z3H4	SAMD7_HUMAN	L	237	ENSP00000391299:S237L;ENSP00000334668:S237L	ENSP00000334668:S237L	S	+	2	0	SAMD7	171127454	0.025000	0.19082	0.005000	0.12908	0.008000	0.06430	0.288000	0.18939	1.507000	0.48752	0.650000	0.86243	TCA		0.498	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1		NM_182610		22	124	0	0	0	0.012319	0	22	124		
SPATA16	83893	broad.mit.edu	37	3	172643146	172643146	+	Silent	SNP	C	C	G	rs200413261		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:172643146C>G	ENST00000351008.3	-	7	1401	c.1218G>C	c.(1216-1218)ccG>ccC	p.P406P		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	406					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.P406P(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGTGAATATCGGCAGCTTCC	0.373																																						uc003fin.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1216-1218)CCG>CCC		spermatogenesis associated 16							62.0	63.0	62.0					3																	172643146		2203	4299	6502	SO:0001819	synonymous_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172643146C>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1218G>C	3.37:g.172643146C>G							p.P406P	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		7	1376	-	Ovarian(172;0.00319)|Breast(254;0.197)		406					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	c.1218G>C	CCDS3221.1																																																																																				0.373	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1		NM_031955		3	92	0	0	0	0.004672	0	3	92		
USP13	8975	broad.mit.edu	37	3	179448467	179448467	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:179448467C>G	ENST00000263966.3	+	10	1695	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Silent_p.L343L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	408	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L408L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATCTGAACTCATTGAACAGG	0.468																																						uc003fkh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1222-1224)CTC>CTG		ubiquitin thiolesterase 13							59.0	56.0	57.0					3																	179448467		2203	4300	6503	SO:0001819	synonymous_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179448467C>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1224C>G	3.37:g.179448467C>G						USP13_uc003fkf.2_Silent_p.L408L	p.L408L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		10	1305	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		408					A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.1224C>G	CCDS3235.1																																																																																				0.468	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1				8	95	0	0	0	0.008291	0	8	95		
PEX5L	51555	broad.mit.edu	37	3	179526147	179526147	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:179526147C>G	ENST00000467460.1	-	13	1761	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H	PEX5L_ENST00000472994.1_Missense_Mutation_p.Q418H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q285H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q434H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q442H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q369H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q475H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q369H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q453H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	477					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.Q477H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTAGACCTGTCTGCAGGTCTG	0.443																																						uc003fki.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(1429-1431)CAG>CAC		peroxisomal biogenesis factor 5-like							97.0	99.0	98.0					3																	179526147		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179526147C>G	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1431G>C	3.37:g.179526147C>G	ENSP00000419975:p.Gln477His					PEX5L_uc011bqd.1_Missense_Mutation_p.Q434H|PEX5L_uc011bqe.1_Missense_Mutation_p.Q285H|PEX5L_uc011bqf.1_Missense_Mutation_p.Q369H|PEX5L_uc003fkj.1_Missense_Mutation_p.Q442H|PEX5L_uc010hxd.1_Missense_Mutation_p.Q475H|PEX5L_uc011bqg.1_Missense_Mutation_p.Q453H|PEX5L_uc011bqh.1_Missense_Mutation_p.Q418H	p.Q477H	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		13	1561	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		477			TPR 3.		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1431G>C	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663901	0.67700	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	6.17	5.18	0.71444	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	N	0.10645	0.015	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.997;0.997;1.0;0.998;0.996;0.999	T	0.80482	-0.1363	10	0.87932	D	0	-18.773	8.5112	0.33217	0.0:0.7457:0.0:0.2543	.	418;453;369;475;442;477	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	H	477;475;442;475;369;285;434;365;418;369;453	ENSP00000419975:Q477H;ENSP00000263962:Q475H;ENSP00000418440:Q442H;ENSP00000376420:Q369H;ENSP00000418665:Q285H;ENSP00000420555:Q434H;ENSP00000418054:Q418H;ENSP00000417270:Q369H;ENSP00000419348:Q453H	ENSP00000263962:Q475H	Q	-	3	2	PEX5L	181008841	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.322000	0.33689	1.368000	0.46115	0.655000	0.94253	CAG		0.443	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1		NM_016559		11	159	0	0	0	0.010729	0	11	159		
KLHL6	89857	broad.mit.edu	37	3	183217456	183217456	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:183217456C>G	ENST00000341319.3	-	4	1104	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	357					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.E357Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AGCTCATGCTCTGTTAGCGGG	0.552																																						uc003flr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1069-1071)GAG>CAG		kelch-like 6							124.0	107.0	113.0					3																	183217456		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183217456C>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1069G>C	3.37:g.183217456C>G	ENSP00000341342:p.Glu357Gln					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron	p.E357Q	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		4	1127	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		357			Kelch 1.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1069G>C	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259980	0.59321	.	.	ENSG00000172578	ENST00000341319	T	0.74106	-0.81	5.12	5.12	0.69794	Kelch-type beta propeller (1);	0.046444	0.85682	D	0.000000	T	0.72053	0.3413	L	0.51422	1.61	0.58432	D	0.999997	P	0.40794	0.729	B	0.39971	0.315	T	0.72276	-0.4341	10	0.36615	T	0.2	.	18.9406	0.92604	0.0:1.0:0.0:0.0	.	357	Q8WZ60	KLHL6_HUMAN	Q	357	ENSP00000341342:E357Q	ENSP00000341342:E357Q	E	-	1	0	KLHL6	184700150	1.000000	0.71417	0.953000	0.39169	0.701000	0.40568	7.445000	0.80570	2.557000	0.86248	0.555000	0.69702	GAG		0.552	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1		NM_130446		15	218	0	0	0	0.004007	0	15	218		
TRA2B	6434	broad.mit.edu	37	3	185636158	185636158	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:185636158G>A	ENST00000453386.2	-	8	1126	c.851C>T	c.(850-852)tCa>tTa	p.S284L	TRA2B_ENST00000382191.4_Missense_Mutation_p.S184L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	284	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S284L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTTACGAGGTGAGTATGATCG	0.378																																						uc003fpv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(850-852)TCA>TTA		splicing factor, arginine/serine-rich 10							119.0	118.0	118.0					3																	185636158		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185636158G>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.851C>T	3.37:g.185636158G>A	ENSP00000416959:p.Ser284Leu					TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.S184L|TRA2B_uc003fpw.2_Missense_Mutation_p.S264L	p.S284L	NM_004593	NP_004584	P62995	TRA2B_HUMAN			8	1127	-			284			Arg/Ser-rich (RS2 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.851C>T	CCDS33905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.793565|4.793565	0.90453|0.90453	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000259043;ENST00000414862|ENST00000453386;ENST00000382191	.|T;T	.|0.23348	.|1.92;1.91	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.180449	.|0.45126	.|N	.|0.000396	T|T	0.51075|0.51075	0.1653|0.1653	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;P	.|0.51653	.|0.947;0.947	.|D;D	.|0.67231	.|0.95;0.95	T|T	0.38672|0.38672	-0.9650|-0.9650	5|10	.|0.72032	.|D	.|0.01	0.2685|0.2685	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|284;284	.|B2RDQ3;P62995	.|.;TRA2B_HUMAN	Y|L	123;103|284;184	.|ENSP00000416959:S284L;ENSP00000371626:S184L	.|ENSP00000371626:S184L	H|S	-|-	1|2	0|0	TRA2B|TRA2B	187118852|187118852	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.918000|0.918000	0.54935|0.54935	6.673000|6.673000	0.74482|0.74482	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.378	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1		NM_004593		8	167	0	0	0	0.004482	0	8	167		
ZNF595	152687	broad.mit.edu	37	4	87139	87139	+	3'UTR	SNP	A	A	G	rs369572114		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:87139A>G	ENST00000339368.6	+	0	1948							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CTTACTAAACATAAGAGAATT	0.373																																						uc003fzv.1		NaN																	0					0						c.(1744-1746)CAT>CGT		zinc finger protein 595		A		1,4299		0,1,2149	35.0	40.0	38.0		1744	1.1	0.0	4		38	1,8533		0,1,4266	no	coding-notMod3	ZNF595	NM_182524.2		0,2,6415	GG,GA,AA		0.0117,0.0233,0.0156			87139	2,12832	2150	4267	6417	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:87139A>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1945A>G	4.37:g.87139A>G						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.H350R|ZNF595_uc011but.1_Missense_Mutation_p.H350R	p.H582R	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1901	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	582						Missense_Mutation	SNP	ENST00000339368.6	37	c.1745A>G																																																																																					0.373	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2		NM_182524		19	49	0	0	0	0.006122	0	19	49		
WHSC1	7468	broad.mit.edu	37	4	1980413	1980413	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:1980413C>T	ENST00000382895.3	+	24	4306	c.3875C>T	c.(3874-3876)tCg>tTg	p.S1292L	WHSC1_ENST00000508803.1_Missense_Mutation_p.S1292L|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1292L|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1292L|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.S640L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1292					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S1292L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCAAACCTTCGACTTCATTT	0.542			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(3874-3876)TCG>TTG		Wolf-Hirschhorn syndrome candidate 1 protein							104.0	101.0	102.0					4																	1980413		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1980413C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3875C>T	4.37:g.1980413C>T	ENSP00000372351:p.Ser1292Leu					WHSC1_uc003geb.3_Missense_Mutation_p.S1292L|WHSC1_uc003gec.3_Missense_Mutation_p.S1292L|WHSC1_uc003ged.3_Missense_Mutation_p.S1292L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S511L|WHSC1_uc011bvh.1_Missense_Mutation_p.S353L|WHSC1_uc010icf.2_Missense_Mutation_p.S640L	p.S1292L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	22	4051	+		all_epithelial(65;1.34e-05)	1292					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3875C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859246	0.91433	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.19	5.19	0.71726	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.53938	D	0.000054	D	0.85708	0.5759	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	0.958;1.0	P;D	0.79108	0.511;0.992	D	0.86685	0.1919	10	0.87932	D	0	.	18.889	0.92391	0.0:1.0:0.0:0.0	.	640;1292	A2A2T2;O96028	.;NSD2_HUMAN	L	1292;1292;1292;1292;640	ENSP00000423972:S1292L;ENSP00000372347:S1292L;ENSP00000372348:S1292L;ENSP00000372351:S1292L;ENSP00000372344:S640L	ENSP00000372344:S640L	S	+	2	0	WHSC1	1950211	1.000000	0.71417	0.927000	0.36925	0.711000	0.40976	7.573000	0.82421	2.686000	0.91538	0.655000	0.94253	TCG		0.542	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		12	89	0	0	0	0.010729	0	12	89		
KIAA0232	9778	broad.mit.edu	37	4	6873346	6873346	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:6873346G>A	ENST00000307659.5	+	8	4302	c.3847G>A	c.(3847-3849)Gaa>Aaa	p.E1283K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1283K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1283							ATP binding (GO:0005524)	p.E1283K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAGAAGTCAAGAAAAACAGAC	0.353																																						uc003gjr.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3847-3849)GAA>AAA		hypothetical protein LOC9778							111.0	111.0	111.0					4																	6873346		1802	4077	5879	SO:0001583	missense	9778						ATP binding	g.chr4:6873346G>A	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3847G>A	4.37:g.6873346G>A	ENSP00000303928:p.Glu1283Lys					KIAA0232_uc003gjq.3_Missense_Mutation_p.E1283K	p.E1283K	NM_014743	NP_055558	Q92628	K0232_HUMAN			8	4310	+			1283					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3847G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896133	0.72639	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.8	5.8	0.92144	.	0.064559	0.64402	D	0.000007	T	0.50463	0.1617	L	0.27053	0.805	0.51012	D	0.999906	P	0.42296	0.775	B	0.39660	0.306	T	0.55927	-0.8063	9	0.72032	D	0.01	-20.5485	20.051	0.97627	0.0:0.0:1.0:0.0	.	1283	Q92628	K0232_HUMAN	K	1283	.	ENSP00000303928:E1283K	E	+	1	0	KIAA0232	6924247	1.000000	0.71417	0.303000	0.25071	0.997000	0.91878	5.474000	0.66781	2.740000	0.93945	0.650000	0.86243	GAA		0.353	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2		NM_014743		15	107	0	0	0	0.003163	0	15	107		
TLR6	10333	broad.mit.edu	37	4	38831092	38831092	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:38831092C>T	ENST00000381950.1	-	1	68	c.3G>A	c.(1-3)atG>atA	p.M1I	TLR6_ENST00000436693.2_Start_Codon_SNP_p.M1I			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	1					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.M1I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCTTTGGTCATGATGTTGC	0.343																																						uc003gtm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1-3)ATG>ATA		toll-like receptor 6 precursor							66.0	71.0	69.0					4																	38831092		2199	4299	6498	SO:0001582	initiator_codon_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38831092C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.3G>A	4.37:g.38831092C>T	ENSP00000371376:p.Met1Ile					TLR6_uc010ifg.1_Missense_Mutation_p.M1I	p.M1I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	69	-			1					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.3G>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001490	0.54254	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542;ENST00000508254;ENST00000514655	T;T;T;T	0.30448	3.18;3.18;1.53;1.82	5.55	4.69	0.59074	.	0.000000	0.64402	D	0.000009	T	0.47395	0.1443	.	.	.	0.50171	D	0.999859	D	0.63880	0.993	P	0.58391	0.838	T	0.48779	-0.9005	9	0.87932	D	0	.	10.7813	0.46379	0.0:0.8517:0.0:0.1483	.	1	Q9Y2C9	TLR6_HUMAN	I	1	ENSP00000389600:M1I;ENSP00000371376:M1I;ENSP00000424718:M1I;ENSP00000423326:M1I	ENSP00000371376:M1I	M	-	3	0	TLR6	38507487	0.906000	0.30813	0.989000	0.46669	0.349000	0.29174	2.145000	0.42207	2.597000	0.87782	0.555000	0.69702	ATG		0.343	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			Missense_Mutation	5	165	0	0	0	0.000602	0	5	165		
PDS5A	23244	broad.mit.edu	37	4	39905710	39905710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:39905710C>T	ENST00000303538.8	-	12	1874	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.W445*	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.W445*(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCCTTTATCCAGCTGACTT	0.383																																						uc003guv.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(1333-1335)TGG>TGA		PDS5, regulator of cohesion maintenance, homolog							91.0	80.0	83.0					4																	39905710		1859	4112	5971	SO:0001587	stop_gained	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39905710C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1335G>A	4.37:g.39905710C>T	ENSP00000303427:p.Trp445*					PDS5A_uc010ifo.2_Nonsense_Mutation_p.W405*|PDS5A_uc003guw.3_Nonsense_Mutation_p.W445*	p.W445*	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			12	1875	-			445						Nonsense_Mutation	SNP	ENST00000303538.8	37	c.1335G>A	CCDS47045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.221179|9.221179	0.99105|0.99105	.|.	.|.	ENSG00000121892|ENSG00000121892	ENST00000513798|ENST00000303538;ENST00000503396	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.75295|.	0.3830|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73672|.	-0.3909|.	3|.	.|.	.|.	.|.	-4.9396|-4.9396	19.2273|19.2273	0.93822|0.93822	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	83|445	.|.	.|.	G|W	-|-	2|3	0|0	PDS5A|PDS5A	39582105|39582105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.557000|2.557000	0.86248|0.86248	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1		NM_015200		3	34	0	0	0	0.009096	0	3	34		
PPBP	5473	broad.mit.edu	37	4	74853297	74853297	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:74853297G>A	ENST00000296028.3	-	2	314	c.221C>T	c.(220-222)cCc>cTc	p.P74L		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	74					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)	p.P74L(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GATGTTTTTGGGATGAATTCC	0.428																																						uc003hhj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(220-222)CCC>CTC		pro-platelet basic protein precursor							121.0	114.0	116.0					4																	74853297		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853297G>A	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.221C>T	4.37:g.74853297G>A	ENSP00000296028:p.Pro74Leu						p.P74L	NM_002704	NP_002695	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		2	301	-	Breast(15;0.00136)		74					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.221C>T	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410928	0.42817	.	.	ENSG00000163736	ENST00000296028	T	0.04809	3.55	2.8	0.908	0.19326	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.330594	0.27841	N	0.017626	T	0.04407	0.0121	L	0.31578	0.945	0.09310	N	1	P	0.43578	0.811	P	0.48063	0.565	T	0.37572	-0.9700	10	0.19590	T	0.45	-1.1729	4.0847	0.09942	0.3865:0.0:0.6135:0.0	.	74	P02775	CXCL7_HUMAN	L	74	ENSP00000296028:P74L	ENSP00000296028:P74L	P	-	2	0	PPBP	75072161	0.005000	0.15991	0.002000	0.10522	0.646000	0.38490	0.445000	0.21677	0.467000	0.27218	0.305000	0.20034	CCC		0.428	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2		NM_002704		27	72	0	0	0	0.00632	0	27	72		
CNOT6L	246175	broad.mit.edu	37	4	78663304	78663304	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:78663304T>C	ENST00000504123.1	-	8	993	c.863A>G	c.(862-864)aAa>aGa	p.K288R	CNOT6L_ENST00000264903.4_Missense_Mutation_p.K288R|CNOT6L_ENST00000506166.1_5'Flank			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	288	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.K317R(1)|p.K288R(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CTTTTCTGTTTTGAAGAATAT	0.338																																						uc011ccd.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)	1						c.(862-864)AAA>AGA		CCR4-NOT transcription complex, subunit 6-like							68.0	61.0	63.0					4																	78663304		1887	4142	6029	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78663304T>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.863A>G	4.37:g.78663304T>C	ENSP00000424896:p.Lys288Arg					CNOT6L_uc003hks.2_Missense_Mutation_p.K288R|CNOT6L_uc003hkt.1_Missense_Mutation_p.K131R|CNOT6L_uc011cce.1_3'UTR	p.K288R	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			8	994	-			288					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.863A>G		.	.	.	.	.	.	.	.	.	.	T	14.75	2.628404	0.46944	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	6.17	6.17	0.99709	Endonuclease/exonuclease/phosphatase (2);	0.041428	0.85682	D	0.000000	T	0.62708	0.2450	N	0.05534	-0.03	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.15484	0.013;0.012	T	0.59526	-0.7438	10	0.25106	T	0.35	.	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	261;288	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	R	288;288;295;63	ENSP00000424896:K288R;ENSP00000264903:K288R;ENSP00000425571:K295R;ENSP00000426320:K63R	ENSP00000264903:K288R	K	-	2	0	CNOT6L	78882328	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.291000	0.59025	2.371000	0.80710	0.533000	0.62120	AAA		0.338	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1				6	31	0	0	0	0.001984	0	6	31		
BMP3	651	broad.mit.edu	37	4	81967324	81967324	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:81967324C>T	ENST00000282701.2	+	2	1069	c.749C>T	c.(748-750)tCt>tTt	p.S250F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	250					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.S250F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCCGCCATTTCTGAGCCAGAA	0.473																																						uc003hmg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(748-750)TCT>TTT		bone morphogenetic protein 3 preproprotein							94.0	95.0	95.0					4																	81967324		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967324C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.749C>T	4.37:g.81967324C>T	ENSP00000282701:p.Ser250Phe						p.S250F	NM_001201	NP_001192	P12645	BMP3_HUMAN			2	1069	+			250					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.749C>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353095	0.41700	.	.	ENSG00000152785	ENST00000282701	T	0.76578	-1.03	5.08	4.23	0.50019	.	0.052087	0.85682	D	0.000000	D	0.86151	0.5864	M	0.82056	2.57	0.58432	D	0.999994	D	0.60160	0.987	P	0.58013	0.831	D	0.88713	0.3224	10	0.72032	D	0.01	.	15.8263	0.78709	0.0:0.8639:0.1361:0.0	.	250	P12645	BMP3_HUMAN	F	250	ENSP00000282701:S250F	ENSP00000282701:S250F	S	+	2	0	BMP3	82186348	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	3.169000	0.50809	1.485000	0.48380	0.655000	0.94253	TCT		0.473	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1				15	114	0	0	0	0.004007	0	15	114		
COPS4	51138	broad.mit.edu	37	4	83996452	83996452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:83996452C>T	ENST00000264389.2	+	10	1225	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	COPS4_ENST00000509093.1_Silent_p.H335H|COPS4_ENST00000503682.1_Nonsense_Mutation_p.R396*|COPS4_ENST00000511653.1_Missense_Mutation_p.T413M	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	364					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.R364*(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CCCCTTAGCACGAGAAGCCCT	0.363																																						uc003hoa.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(1)|large_intestine(1)	kidney(1)	1						c.(1090-1092)CGA>TGA		COP9 signalosome subunit 4							60.0	60.0	60.0					4																	83996452		2203	4300	6503	SO:0001587	stop_gained	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83996452C>T	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.1090C>T	4.37:g.83996452C>T	ENSP00000264389:p.Arg364*					COPS4_uc003hob.2_Missense_Mutation_p.T413M|COPS4_uc010ijw.2_Nonsense_Mutation_p.R396*|COPS4_uc010ijx.2_Silent_p.H335H	p.R364*	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			10	1229	+		Hepatocellular(203;0.114)	364					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Nonsense_Mutation	SNP	ENST00000264389.2	37	c.1090C>T	CCDS3600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.438577|4.438577	0.83885|0.83885	.|.	.|.	ENSG00000138663|ENSG00000138663	ENST00000264389;ENST00000509317;ENST00000503682|ENST00000511653	.|T	.|0.48522	.|0.81	5.78|5.78	4.01|4.01	0.46588|0.46588	.|.	0.064020|.	0.64402|.	D|.	0.000004|.	.|T	.|0.38612	.|0.1047	.|.	.|.	.|.	0.35989|0.35989	D|D	0.836599|0.836599	.|B	.|0.20164	.|0.042	.|B	.|0.09377	.|0.004	.|T	.|0.40942	.|-0.9536	.|8	0.08837|0.54805	T|T	0.75|0.06	-5.9455|-5.9455	11.2479|11.2479	0.49008|0.49008	0.1276:0.8063:0.0:0.0661|0.1276:0.8063:0.0:0.0661	.|.	.|413	.|D6RAX7	.|.	X|M	364;252;396|413	.|ENSP00000424655:T413M	ENSP00000264389:R364X|ENSP00000424655:T413M	R|T	+|+	1|2	2|0	COPS4|COPS4	84215476|84215476	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.832000|0.832000	0.47134|0.47134	5.669000|5.669000	0.68081|0.68081	0.855000|0.855000	0.35359|0.35359	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.363	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1				5	54	0	0	0	0.000602	0	5	54		
ZNF330	27309	broad.mit.edu	37	4	142147922	142147922	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:142147922G>A	ENST00000262990.4	+	5	441	c.213G>A	c.(211-213)ggG>ggA	p.G71G	ZNF330_ENST00000421169.2_Splice_Site_p.G11G	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	71						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.G71G(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTCATTAGGGAAAACAAAGT	0.393																																						uc003iiq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(211-213)GGG>GGA		zinc finger protein 330							187.0	166.0	173.0					4																	142147922		2203	4300	6503	SO:0001630	splice_region_variant	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142147922G>A	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.212-1G>A	4.37:g.142147922G>A						ZNF330_uc011chl.1_Silent_p.G11G	p.G71G	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			5	433	+	all_hematologic(180;0.162)		71			C4-type 2 (Potential).		B2RDA3	Silent	SNP	ENST00000262990.4	37	c.213G>A	CCDS3754.1																																																																																				0.393	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2		NM_014487	Silent	24	109	0	0	0	0.003954	0	24	109		
PLRG1	5356	broad.mit.edu	37	4	155458505	155458505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:155458505G>C	ENST00000499023.2	-	14	1544	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	PLRG1_ENST00000393905.2_Missense_Mutation_p.S473C|PLRG1_ENST00000302078.5_Missense_Mutation_p.S464C	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	473					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.S473C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TCGACTTTCAGACTGATCAAA	0.408																																						uc003iny.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1417-1419)TCT>TGT		pleiotropic regulator 1 (PRL1 homolog,							121.0	116.0	118.0					4																	155458505		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155458505G>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1418C>G	4.37:g.155458505G>C	ENSP00000424417:p.Ser473Cys					PLRG1_uc003inz.2_Missense_Mutation_p.S464C	p.S473C	NM_002669	NP_002660	O43660	PLRG1_HUMAN			14	1481	-	all_hematologic(180;0.215)	Renal(120;0.0854)	473			WD 7.		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1418C>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808087	0.90707	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	D;D;D	0.81908	-1.55;-1.55;-1.55	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.95197	0.8313	10	0.87932	D	0	-20.4848	19.5896	0.95503	0.0:0.0:1.0:0.0	.	464;473	O43660-2;O43660	.;PLRG1_HUMAN	C	473;473;464	ENSP00000424417:S473C;ENSP00000377483:S473C;ENSP00000303191:S464C	ENSP00000303191:S464C	S	-	2	0	PLRG1	155677955	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.632000	0.89209	0.585000	0.79938	TCT		0.408	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1		NM_002669		15	41	0	0	0	0.003163	0	15	41		
FGA	2243	broad.mit.edu	37	4	155507881	155507881	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:155507881G>C	ENST00000302053.3	-	5	778	c.700C>G	c.(700-702)Ccc>Gcc	p.P234A	FGA_ENST00000403106.3_Missense_Mutation_p.P234A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	234					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|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)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.P234A(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAATTTCCGGGAACCAAGTCT	0.458																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(700-702)CCC>GCC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						126.0	131.0	129.0					4																	155507881		2203	4300	6503	SO:0001583	missense	2243				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.chr4:155507881G>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.700C>G	4.37:g.155507881G>C	ENSP00000306361:p.Pro234Ala					FGA_uc003ioe.1_Missense_Mutation_p.P234A|FGA_uc003iof.1_Intron	p.P234A	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	758	-	all_hematologic(180;0.215)	Renal(120;0.0458)	234			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.700C>G	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377417	0.61735	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.57436	0.4;0.4	5.78	4.06	0.47325	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	7.810730	0.00166	N	0.000000	T	0.60702	0.2289	L	0.51914	1.62	0.37107	D	0.900143	P;P	0.43857	0.819;0.724	P;B	0.46659	0.523;0.259	T	0.41502	-0.9505	10	0.66056	D	0.02	.	11.6151	0.51086	0.0646:0.0:0.8107:0.1247	.	234;234	P02671-2;P02671	.;FIBA_HUMAN	A	234	ENSP00000306361:P234A;ENSP00000385981:P234A	ENSP00000306361:P234A	P	-	1	0	FGA	155727331	0.995000	0.38212	0.020000	0.16555	0.002000	0.02628	2.393000	0.44442	0.907000	0.36646	-0.137000	0.14449	CCC		0.458	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		3	137	0	0	0	0.004672	0	3	137		
HMGB2	3148	broad.mit.edu	37	4	174254744	174254744	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:174254744G>A	ENST00000296503.5	-	2	930	c.57C>T	c.(55-57)ttC>ttT	p.F19F	HMGB2_ENST00000438704.2_Silent_p.F19F|HMGB2_ENST00000446922.2_Silent_p.F19F			P26583	HMGB2_HUMAN	high mobility group box 2	19					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.F19F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGTCTGCACGAAGAAGGCGT	0.582																																						uc011ckc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(55-57)TTC>TTT		high-mobility group box 2							84.0	84.0	84.0					4																	174254744		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254744G>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.57C>T	4.37:g.174254744G>A						HMGB2_uc003ita.3_Silent_p.F19F|HMGB2_uc003itb.2_Silent_p.F19F|HMGB2_uc003itc.2_Silent_p.F19F	p.F19F	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	177	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	19			HMG box 1.		B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.57C>T	CCDS3816.1																																																																																				0.582	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1		NM_001130688		7	70	0	0	0	0.001984	0	7	70		
TENM3	55714	broad.mit.edu	37	4	183675804	183675804	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:183675804G>C	ENST00000511685.1	+	22	4407	c.4284G>C	c.(4282-4284)cgG>cgC	p.R1428R	TENM3_ENST00000406950.2_Silent_p.R1428R|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1428					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1428R(1)									AAATTAACCGGATAAGGCAGG	0.478																																						uc003ivd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(4282-4284)CGG>CGC		odz, odd Oz/ten-m homolog 3							57.0	57.0	57.0					4																	183675804		1964	4155	6119	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183675804G>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4284G>C	4.37:g.183675804G>C						ODZ3_uc003ive.1_Silent_p.R841R	p.R1428R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	21	4321	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1428			Extracellular (Potential).|NHL 4.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.4284G>C	CCDS47165.1																																																																																				0.478	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				3	36	0	0	0	0.004672	0	3	36		
SNX25	83891	broad.mit.edu	37	4	186278863	186278863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:186278863C>T	ENST00000504273.1	+	16	2425	c.2131C>T	c.(2131-2133)Cag>Tag	p.Q711*	SNX25_ENST00000264694.8_Nonsense_Mutation_p.Q711*|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	711					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.Q711*(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGCCCTCGTTCAGGTCACTTT	0.368																																						uc003ixh.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(2131-2133)CAG>TAG		sorting nexin 25							162.0	155.0	157.0					4																	186278863		2203	4300	6503	SO:0001587	stop_gained	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186278863C>T	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2131C>T	4.37:g.186278863C>T	ENSP00000426255:p.Gln711*					SNX25_uc010ish.2_Nonsense_Mutation_p.Q427*|SNX25_uc003ixi.2_Nonsense_Mutation_p.Q215*	p.Q711*	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	16	2320	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	711					Q3ZT30|Q8N6K3	Nonsense_Mutation	SNP	ENST00000504273.1	37	c.2131C>T	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	43	10.089874	0.99335	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-18.1578	20.2822	0.98520	0.0:1.0:0.0:0.0	.	.	.	.	X	711;711;244	.	ENSP00000264693:Q244X	Q	+	1	0	SNX25	186515857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.806000	0.96561	0.655000	0.94253	CAG		0.368	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1		NM_031953		10	104	0	0	0	0.006214	0	10	104		
DNAH5	1767	broad.mit.edu	37	5	13865914	13865914	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:13865914C>G	ENST00000265104.4	-	27	4322	c.4218G>C	c.(4216-4218)aaG>aaC	p.K1406N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem. {ECO:0000250}.				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)	p.K1406N(1)		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)					TTAGTTGCTTCTTTATTTCAA	0.343									Kartagener syndrome																													uc003jfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4216-4218)AAG>AAC		dynein, axonemal, heavy chain 5							50.0	54.0	52.0					5																	13865914		2202	4299	6501	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.chr5:13865914C>G	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.4218G>C	5.37:g.13865914C>G	ENSP00000265104:p.Lys1406Asn						p.K1406N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			27	4260	-	Lung NSC(4;0.00476)		1406			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4218G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.542871	0.65198	.	.	ENSG00000039139	ENST00000265104	T	0.62105	0.05	5.88	3.13	0.36017	Dynein heavy chain, domain-2 (1);	0.061993	0.64402	D	0.000001	T	0.77558	0.4148	M	0.85630	2.765	0.50171	D	0.999851	D	0.63046	0.992	D	0.69654	0.965	T	0.78763	-0.2077	10	0.72032	D	0.01	.	9.5253	0.39160	0.0:0.7339:0.0:0.2661	.	1406	Q8TE73	DYH5_HUMAN	N	1406	ENSP00000265104:K1406N	ENSP00000265104:K1406N	K	-	3	2	DNAH5	13918914	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.603000	0.24149	0.843000	0.35070	0.637000	0.83480	AAG		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		19	113	0	0	0	0.008871	0	19	113		
NIPBL	25836	broad.mit.edu	37	5	37045560	37045560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:37045560T>A	ENST00000282516.8	+	37	6858	c.6359T>A	c.(6358-6360)tTa>tAa	p.L2120*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L2120*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2120					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.L2120*(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTTCAAAATTAAAAAGTCAA	0.303																																						uc003jkl.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(6358-6360)TTA>TAA		delangin isoform A							125.0	130.0	128.0					5																	37045560		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37045560T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6359T>A	5.37:g.37045560T>A	ENSP00000282516:p.Leu2120*					NIPBL_uc003jkk.3_Nonsense_Mutation_p.L2120*	p.L2120*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		37	6858	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2120					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.6359T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	50	16.156398	0.99856	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1894	15.932	0.79668	0.0:0.0:0.0:1.0	.	.	.	.	X	2120	.	ENSP00000282516:L2120X	L	+	2	0	NIPBL	37081317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.630000	0.83225	2.222000	0.72286	0.455000	0.32223	TTA		0.303	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384		51	151	0	0	0	0.01441	0	51	151		
WDR70	55100	broad.mit.edu	37	5	37703084	37703084	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:37703084C>G	ENST00000265107.4	+	13	1467	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	437							enzyme binding (GO:0019899)	p.L437L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATAAGCTCATAGTCACTG	0.413																																						uc003jkv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1309-1311)CTC>CTG		WD repeat domain 70							114.0	106.0	109.0					5																	37703084		2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37703084C>G	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1311C>G	5.37:g.37703084C>G							p.L437L	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		13	1369	+	all_lung(31;0.000285)		437			WD 6.		Q9H053	Silent	SNP	ENST00000265107.4	37	c.1311C>G	CCDS34147.1																																																																																				0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1		NM_018034		8	130	0	0	0	0.00308	0	8	130		
LIFR	3977	broad.mit.edu	37	5	38484884	38484884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:38484884G>A	ENST00000263409.4	-	18	2746	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.R862*	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.R862*(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TACCATTCTCGTTTCCGATAG	0.363			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NaN		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(3)|large_intestine(1)	4						c.(2584-2586)CGA>TGA		leukemia inhibitory factor receptor precursor							72.0	68.0	70.0					5																	38484884		2203	4300	6503	SO:0001587	stop_gained	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38484884G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2584C>T	5.37:g.38484884G>A	ENSP00000263409:p.Arg862*					LIFR_uc003jli.2_Nonsense_Mutation_p.R862*	p.R862*	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			18	2916	-	all_lung(31;0.00021)		862			Cytoplasmic (Potential).		Q6LCD9	Nonsense_Mutation	SNP	ENST00000263409.4	37	c.2584C>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	40	8.087918	0.98648	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	.	.	.	5.78	2.66	0.31614	.	0.110075	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1154	13.5623	0.61797	0.0:0.0:0.3091:0.6909	.	.	.	.	X	862	.	ENSP00000263409:R862X	R	-	1	2	LIFR	38520641	0.994000	0.37717	0.961000	0.40146	0.775000	0.43874	2.083000	0.41615	0.742000	0.32697	-0.309000	0.09137	CGA		0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		NM_002310		4	29	0	0	0	0.009096	0	4	29		
ZNF131	7690	broad.mit.edu	37	5	43161885	43161885	+	Silent	SNP	A	A	G	rs374764903		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:43161885A>G	ENST00000399534.1	+	5	950	c.906A>G	c.(904-906)gcA>gcG	p.A302A	ZNF131_ENST00000509156.1_Silent_p.A302A|ZNF131_ENST00000306938.4_Silent_p.A268A|ZNF131_ENST00000509634.1_Silent_p.A268A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Silent_p.A268A			P52739	ZN131_HUMAN	zinc finger protein 131	302					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A268A(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAGAGAGCGCATGGAAACAGC	0.373																																						uc011cpw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(904-906)GCA>GCG		zinc finger protein 131							83.0	74.0	77.0					5																	43161885		1890	4111	6001	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161885A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.906A>G	5.37:g.43161885A>G						ZNF131_uc010ivl.1_Silent_p.A268A|ZNF131_uc003jnj.3_Silent_p.A23A|ZNF131_uc003jnk.2_Silent_p.A268A|ZNF131_uc003jnn.3_Silent_p.A23A|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.A302A	NM_003432	NP_003423	P52739	ZN131_HUMAN			5	942	+			302			C2H2-type 2.		B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.906A>G																																																																																					0.373	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1		NM_003432		21	65	0	0	0	0.010504	0	21	65		
FST	10468	broad.mit.edu	37	5	52778823	52778823	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:52778823G>C	ENST00000256759.3	+	2	582	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	FST_ENST00000396947.3_Missense_Mutation_p.E67Q	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	67	TB.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.E67Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTCGTGGACCGAGGAGGACGT	0.587											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jpd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(199-201)GAG>CAG		follistatin isoform FST344 precursor							66.0	65.0	65.0					5																	52778823		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52778823G>C	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.199G>C	5.37:g.52778823G>C	ENSP00000256759:p.Glu67Gln		OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	FST_uc003jpc.2_Missense_Mutation_p.E67Q	p.E67Q	NM_013409	NP_037541	P19883	FST_HUMAN			2	226	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	67			TB.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.199G>C	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656725	0.67586	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947	D;D	0.83335	-1.71;-1.71	4.94	4.94	0.65067	Matrix fibril-associated (1);TGF-beta binding (1);	0.046786	0.85682	D	0.000000	T	0.80121	0.4565	M	0.66939	2.045	0.80722	D	1	P	0.35527	0.507	B	0.20767	0.031	T	0.82194	-0.0578	10	0.54805	T	0.06	-16.3324	18.1589	0.89702	0.0:0.0:1.0:0.0	.	67	P19883	FST_HUMAN	Q	67	ENSP00000256759:E67Q;ENSP00000380151:E67Q	ENSP00000256759:E67Q	E	+	1	0	FST	52814580	1.000000	0.71417	0.991000	0.47740	0.815000	0.46073	9.112000	0.94314	2.300000	0.77407	0.491000	0.48974	GAG		0.587	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1		NM_013409		8	28	0	0	0	0.00308	0	8	28		
DHX29	54505	broad.mit.edu	37	5	54579357	54579357	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:54579357C>T	ENST00000251636.5	-	11	1787	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	547						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.E547K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTAACAGGTTCCAAATCTTCC	0.398																																						uc003jpx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1639-1641)GAA>AAA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							106.0	113.0	111.0					5																	54579357		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579357C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1639G>A	5.37:g.54579357C>T	ENSP00000251636:p.Glu547Lys					DHX29_uc010ivw.2_RNA	p.E547K	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			11	1759	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	547					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.1639G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356115	0.61293	.	.	ENSG00000067248	ENST00000251636	T	0.09445	2.98	5.52	5.52	0.82312	.	0.256266	0.43260	D	0.000589	T	0.09818	0.0241	L	0.27053	0.805	0.46521	D	0.999089	B	0.28713	0.22	B	0.24541	0.054	T	0.25813	-1.0121	10	0.23891	T	0.37	.	19.4455	0.94844	0.0:1.0:0.0:0.0	.	547	Q7Z478	DHX29_HUMAN	K	547	ENSP00000251636:E547K	ENSP00000251636:E547K	E	-	1	0	DHX29	54615114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.173000	0.58249	2.599000	0.87857	0.591000	0.81541	GAA		0.398	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030		16	224	0	0	0	0.003163	0	16	224		
DHX29	54505	broad.mit.edu	37	5	54579455	54579455	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:54579455C>G	ENST00000251636.5	-	11	1689	c.1541G>C	c.(1540-1542)aGa>aCa	p.R514T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	514						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.R514T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGAGTTTTCTCTCTTATTTTC	0.378																																						uc003jpx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1540-1542)AGA>ACA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							139.0	135.0	136.0					5																	54579455		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579455C>G	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1541G>C	5.37:g.54579455C>G	ENSP00000251636:p.Arg514Thr					DHX29_uc010ivw.2_RNA	p.R514T	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			11	1661	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	514			Potential.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.1541G>C	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	2.879	-0.232213	0.05983	.	.	ENSG00000067248	ENST00000251636	T	0.09723	2.95	5.41	-3.76	0.04359	.	0.794609	0.12280	N	0.483032	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45745	-0.9240	10	0.13470	T	0.59	.	7.5166	0.27604	0.0:0.2729:0.352:0.3752	.	514	Q7Z478	DHX29_HUMAN	T	514	ENSP00000251636:R514T	ENSP00000251636:R514T	R	-	2	0	DHX29	54615212	0.000000	0.05858	0.817000	0.32601	0.934000	0.57294	-0.341000	0.07811	-0.503000	0.06586	-1.031000	0.02408	AGA		0.378	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030		21	165	0	0	0	0.010504	0	21	165		
TAF9	6880	broad.mit.edu	37	5	68661350	68661350	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:68661350C>T	ENST00000328663.4	-	3	681	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.R72Q|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.R72Q|TAF9_ENST00000502819.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	72					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R72Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GATTGCCAATCGCACATCATC	0.418																																						uc003jwc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(214-216)CGA>CAA		TAF9 RNA polymerase II, TATA box binding							104.0	101.0	102.0					5																	68661350		2203	4300	6503	SO:0001583	missense	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68661350C>T	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.215G>A	5.37:g.68661350C>T	ENSP00000370193:p.Arg72Gln					TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.R72Q|TAF9_uc003jwe.1_Missense_Mutation_p.R72Q|TAF9_uc003jwf.1_Missense_Mutation_p.R72Q	p.R72Q	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	547	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	72					D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000328663.4	37	c.215G>A	CCDS4002.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809863	0.50421	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245;ENST00000509462;ENST00000504109;ENST00000512152;ENST00000508954	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.16	5.16	0.70880	Histone-fold (2);	0.054166	0.64402	D	0.000001	T	0.43433	0.1247	L	0.47078	1.49	0.50171	D	0.999859	B	0.29671	0.254	B	0.25405	0.06	T	0.42447	-0.9451	10	0.66056	D	0.02	-4.2617	16.5452	0.84443	0.0:1.0:0.0:0.0	.	72	Q16594	TAF9_HUMAN	Q	72	ENSP00000421873:R72Q;ENSP00000370193:R72Q;ENSP00000217893:R72Q;ENSP00000425944:R72Q;ENSP00000427343:R72Q;ENSP00000426283:R72Q;ENSP00000425798:R72Q;ENSP00000427617:R72Q	ENSP00000217893:R72Q	R	-	2	0	TAF9	68697106	0.982000	0.34865	1.000000	0.80357	0.999000	0.98932	2.655000	0.46707	2.860000	0.98153	0.655000	0.94253	CGA		0.418	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1		NM_003187		14	144	0	0	0	0.00245	0	14	144		
POLK	51426	broad.mit.edu	37	5	74869692	74869692	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:74869692G>C	ENST00000241436.4	+	5	710	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	POLK_ENST00000504026.1_Missense_Mutation_p.E180Q|POLK_ENST00000380481.3_Missense_Mutation_p.E90Q|POLK_ENST00000515295.1_Missense_Mutation_p.E180Q|POLK_ENST00000508526.1_Missense_Mutation_p.E180Q|POLK_ENST00000352007.5_Missense_Mutation_p.E180Q|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	180	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.E180Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGTGAGTAAAGAGGTAAGTTA	0.458								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|kidney(2)	4						c.(538-540)GAG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							109.0	101.0	104.0					5																	74869692		2203	4299	6502	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74869692G>C	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.538G>C	5.37:g.74869692G>C	ENSP00000241436:p.Glu180Gln					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.E180Q|POLK_uc003keb.2_Missense_Mutation_p.E180Q|POLK_uc010izq.2_Missense_Mutation_p.E180Q|POLK_uc003kec.2_Missense_Mutation_p.E90Q|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.E90Q|POLK_uc003kee.2_Missense_Mutation_p.E180Q|POLK_uc003kef.2_Missense_Mutation_p.E90Q	p.E180Q	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	5	634	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	180			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.538G>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762292	0.49468	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	6.01	4.18	0.49190	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.139822	0.64402	N	0.000004	T	0.57388	0.2050	N	0.17764	0.52	0.51482	D	0.999921	B;B;B;B	0.34181	0.44;0.044;0.07;0.118	B;B;B;B	0.32342	0.144;0.057;0.121;0.114	T	0.56402	-0.7985	10	0.46703	T	0.11	-11.2087	16.5758	0.84637	0.0:0.2466:0.7534:0.0	.	180;180;180;180	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	Q	180;180;180;180;180;90	ENSP00000241436:E180Q;ENSP00000342256:E180Q;ENSP00000424174:E180Q;ENSP00000425075:E180Q;ENSP00000426853:E180Q;ENSP00000369848:E90Q	ENSP00000241436:E180Q	E	+	1	0	POLK	74905448	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	3.735000	0.55044	0.817000	0.34445	0.655000	0.94253	GAG		0.458	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		4	69	0	0	0	0.009096	0	4	69		
POC5	134359	broad.mit.edu	37	5	74970317	74970317	+	Silent	SNP	G	G	C	rs568871068		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:74970317G>C	ENST00000428202.2	-	12	1860	c.1671C>G	c.(1669-1671)acC>acG	p.T557T	POC5_ENST00000510798.1_Silent_p.T381T|POC5_ENST00000514838.2_Silent_p.T529T|POC5_ENST00000380475.2_Silent_p.T381T|POC5_ENST00000446329.2_Silent_p.T532T	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	557					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T531T(1)|p.T557T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGCTGATCTGGTTCCAAGTG	0.433																																						uc003keh.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)	1						c.(1669-1671)ACC>ACG		proteome of centriole 5 isoform 1							246.0	242.0	243.0					5																	74970317		1907	4136	6043	SO:0001819	synonymous_variant	134359				cell cycle	centriole		g.chr5:74970317G>C	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1671C>G	5.37:g.74970317G>C						POC5_uc010izu.2_Silent_p.T381T|POC5_uc003keg.3_Silent_p.T532T	p.T557T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			12	1868	-			557					B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	ENST00000428202.2	37	c.1671C>G	CCDS47236.1																																																																																				0.433	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1		NM_152408		43	185	0	0	0	0.00874	0	43	185		
FBN2	2201	broad.mit.edu	37	5	127609548	127609548	+	Silent	SNP	G	G	A	rs28763922	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:127609548G>A	ENST00000508053.1	-	67	8798	c.7824C>T	c.(7822-7824)acC>acT	p.T2608T	FBN2_ENST00000262464.4_Silent_p.T2608T			P35556	FBN2_HUMAN	fibrillin 2	2608	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T2608T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTCAGTCCGGTGGCATCAA	0.393													G|||	23	0.00459265	0.0174	0.0	5008	,	,		18028	0.0		0.0	False		,,,				2504	0.0					uc003kuu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7822-7824)ACC>ACT		fibrillin 2 precursor		G		65,4341	60.5+/-97.4	1,63,2139	106.0	97.0	100.0		7824	-6.5	0.9	5	dbSNP_125	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN2	NM_001999.3		1,64,6438	AA,AG,GG		0.0116,1.4753,0.5075		2608/2913	127609548	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127609548G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7824C>T	5.37:g.127609548G>A							p.T2608T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	61	8263	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2608			EGF-like 44; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.7824C>T	CCDS34222.1																																																																																				0.393	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		4	66	0	0	0	0.000602	0	4	66		
FNIP1	96459	broad.mit.edu	37	5	131007915	131007915	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:131007915G>A	ENST00000510461.1	-	14	2317	c.2222C>T	c.(2221-2223)tCa>tTa	p.S741L	FNIP1_ENST00000307954.8_Missense_Mutation_p.S696L|FNIP1_ENST00000307968.7_Missense_Mutation_p.S713L|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	741					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S741L(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACAAGAAAATGAAGCAGGCAC	0.453																																						uc003kvs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(2221-2223)TCA>TTA		folliculin interacting protein 1 isoform 1							155.0	158.0	157.0					5																	131007915		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131007915G>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2222C>T	5.37:g.131007915G>A	ENSP00000421985:p.Ser741Leu					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.S713L|FNIP1_uc010jdm.1_Missense_Mutation_p.S696L	p.S741L	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	2364	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	741					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.2222C>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.162926	0.09287	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14022	2.54;2.54;2.54	5.76	2.06	0.26882	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.20307	N	0.999917	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39078	-0.9631	9	0.30078	T	0.28	0.1274	10.3962	0.44203	0.2605:0.0:0.7395:0.0	.	741;713;741	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	L	713;696;493;741	ENSP00000309266:S713L;ENSP00000310453:S696L;ENSP00000421985:S741L	ENSP00000310453:S696L	S	-	2	0	FNIP1	131035814	0.093000	0.21703	0.002000	0.10522	0.549000	0.35272	2.497000	0.45354	0.100000	0.17581	-0.150000	0.13652	TCA		0.453	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		21	199	0	0	0	0.008871	0	21	199		
SLC25A2	83884	broad.mit.edu	37	5	140683215	140683215	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:140683215G>A	ENST00000239451.4	-	1	397	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	73					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A73V(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGCGACGTAGGCCATAAGTGC	0.572																																						uc003ljf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(217-219)GCC>GTC		solute carrier family 25 member 2	L-Ornithine(DB00129)						84.0	82.0	83.0					5																	140683215		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683215G>A	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.218C>T	5.37:g.140683215G>A	ENSP00000239451:p.Ala73Val						p.A73V	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	398	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	73			Helical; Name=2; (Potential).|Solcar 1.		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.218C>T	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329675	0.60743	.	.	ENSG00000120329	ENST00000239451	T	0.79033	-1.23	3.72	3.72	0.42706	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	D	0.86053	0.5841	M	0.71871	2.18	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.87664	0.2536	10	0.87932	D	0	-10.8371	13.7933	0.63155	0.0:0.0:1.0:0.0	.	73	Q9BXI2	ORNT2_HUMAN	V	73	ENSP00000239451:A73V	ENSP00000239451:A73V	A	-	2	0	SLC25A2	140663399	1.000000	0.71417	0.166000	0.22797	0.004000	0.04260	8.721000	0.91446	2.397000	0.81536	0.585000	0.79938	GCC		0.572	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2		NM_031947		5	78	0	0	0	0.000602	0	5	78		
GRXCR2	643226	broad.mit.edu	37	5	145239353	145239353	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:145239353C>T	ENST00000377976.1	-	3	689	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	230						cell projection (GO:0042995)		p.L230L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CAGGGCACCTCAGGGCCCGAT	0.547																																						uc003lns.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(688-690)CTG>CTA		glutaredoxin, cysteine rich 2							77.0	77.0	77.0					5																	145239353		2203	4300	6503	SO:0001819	synonymous_variant	643226							g.chr5:145239353C>T		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.690G>A	5.37:g.145239353C>T							p.L230L	NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN			3	690	-			230						Silent	SNP	ENST00000377976.1	37	c.690G>A	CCDS34263.1																																																																																				0.547	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2				7	66	0	0	0	0.001984	0	7	66		
GPR151	134391	broad.mit.edu	37	5	145894520	145894520	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:145894520A>T	ENST00000311104.2	-	1	1233	c.1157T>A	c.(1156-1158)gTa>gAa	p.V386E		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	386						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V386E(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCTCTACGTCAGGAAG	0.502																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(1156-1158)GTA>GAA		G protein-coupled receptor 151							139.0	126.0	131.0					5																	145894520		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145894520A>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.1157T>A	5.37:g.145894520A>T	ENSP00000308733:p.Val386Glu						p.V386E	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1157	-			386			Cytoplasmic (Potential).		Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.1157T>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064822	0.76187	.	.	ENSG00000173250	ENST00000311104	T	0.79940	-1.32	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	D	0.89663	0.6780	M	0.77616	2.38	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	D	0.90679	0.4604	10	0.87932	D	0	.	15.7887	0.78332	1.0:0.0:0.0:0.0	.	386	Q8TDV0	GP151_HUMAN	E	386	ENSP00000308733:V386E	ENSP00000308733:V386E	V	-	2	0	GPR151	145874713	1.000000	0.71417	0.904000	0.35570	0.885000	0.51271	7.745000	0.85046	2.367000	0.80283	0.528000	0.53228	GTA		0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1		NM_194251		23	49	0	0	0	0.00278	0	23	49		
G3BP1	10146	broad.mit.edu	37	5	151169904	151169904	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:151169904C>T	ENST00000394123.3	+	3	261	c.116C>T	c.(115-117)tCt>tTt	p.S39F	G3BP1_ENST00000356245.3_Missense_Mutation_p.S39F|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	39	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.S39F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAGAACTCTTCTTATGTCCAT	0.368																																						uc003lun.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(115-117)TCT>TTT		Ras-GTPase-activating protein SH3-domain-binding							55.0	56.0	55.0					5																	151169904		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151169904C>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.116C>T	5.37:g.151169904C>T	ENSP00000377681:p.Ser39Phe					G3BP1_uc010jhy.1_Missense_Mutation_p.S39F|G3BP1_uc003lum.2_Missense_Mutation_p.S39F|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	p.S39F	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	287	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	39			NTF2.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.116C>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557488	0.86231	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.74209	-0.82;-0.82	4.55	4.55	0.56014	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.927	D	0.89472	0.3744	10	0.72032	D	0.01	-3.9132	17.6709	0.88217	0.0:1.0:0.0:0.0	.	39;39	E5RJU8;Q13283	.;G3BP1_HUMAN	F	39;39;39;39;49;39;39	ENSP00000377681:S39F;ENSP00000348578:S39F	ENSP00000274596:S39F	S	+	2	0	G3BP1	151150097	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.225000	0.72522	0.455000	0.32223	TCT		0.368	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1		NM_005754		5	50	0	0	0	0.000602	0	5	50		
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:1313343C>T	ENST00000296839.2	+	1	669	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687																																						uc003mtl.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(403-405)TCG>TTG		forkhead box Q1							26.0	29.0	28.0					6																	1313343		2157	4217	6374	SO:0001583	missense	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313343C>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.404C>T	6.37:g.1313343C>T	ENSP00000296839:p.Ser135Leu						p.S135L	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	669	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	135			Fork-head.		Q9NS06	Missense_Mutation	SNP	ENST00000296839.2	37	c.404C>T	CCDS4471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594792	0.86953	.	.	ENSG00000164379	ENST00000296839	D	0.96619	-4.07	3.35	3.35	0.38373	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000003	D	0.97801	0.9278	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.98512	1.0619	10	0.87932	D	0	.	13.4722	0.61287	0.0:1.0:0.0:0.0	.	135	Q9C009	FOXQ1_HUMAN	L	135	ENSP00000296839:S135L	ENSP00000296839:S135L	S	+	2	0	FOXQ1	1258343	0.998000	0.40836	0.696000	0.30242	0.775000	0.43874	5.373000	0.66162	1.737000	0.51674	0.184000	0.17185	TCG		0.687	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		8	9	0	0	0	0.006122	0	8	9		
NUP153	9972	broad.mit.edu	37	6	17669713	17669713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:17669713G>T	ENST00000262077.2	-	6	916	c.917C>A	c.(916-918)tCa>tAa	p.S306*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.S306*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	306					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S306*(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCGAGCTGTTGAACTGGTCAC	0.373																																						uc003ncd.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(916-918)TCA>TAA		nucleoporin 153kDa							85.0	85.0	85.0					6																	17669713		2203	4300	6503	SO:0001587	stop_gained	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17669713G>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.917C>A	6.37:g.17669713G>T	ENSP00000262077:p.Ser306*					NUP153_uc011dje.1_Nonsense_Mutation_p.S306*|NUP153_uc010jpl.1_Nonsense_Mutation_p.S306*	p.S306*	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		6	1117	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	306					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	ENST00000262077.2	37	c.917C>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	38	6.862598	0.97893	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	5.64	4.78	0.61160	.	0.000000	0.42964	D	0.000634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9406	14.7665	0.69642	0.0697:0.0:0.9303:0.0	.	.	.	.	X	306;328;306	.	ENSP00000262077:S306X	S	-	2	0	NUP153	17777692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.192000	0.77771	1.386000	0.46466	0.563000	0.77884	TCA		0.373	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1				4	115	1	0	0.00024832	0.009096	0.000258595	4	115		
ALDH5A1	7915	broad.mit.edu	37	6	24503595	24503595	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:24503595C>T	ENST00000357578.3	+	3	688	c.543C>T	c.(541-543)acC>acT	p.T181T	ALDH5A1_ENST00000546278.1_Silent_p.T93T|ALDH5A1_ENST00000348925.2_Silent_p.T181T|ALDH5A1_ENST00000491546.1_Silent_p.T153T	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	181					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.T181T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TTATCCACACCCCGGCAAAGG	0.572																																						uc003neg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(541-543)ACC>ACT		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						48.0	49.0	48.0					6																	24503595		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24503595C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.543C>T	6.37:g.24503595C>T						ALDH5A1_uc003nef.2_Silent_p.T181T	p.T181T	NM_001080	NP_001071	P51649	SSDH_HUMAN			3	571	+			181					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.543C>T	CCDS4555.1																																																																																				0.572	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2				3	35	0	0	0	0.010729	0	3	35		
BTN2A1	11120	broad.mit.edu	37	6	26468591	26468591	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:26468591G>A	ENST00000312541.5	+	8	1646	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.M405I	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	466	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.M466I(1)|p.M452I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCTACAACATGAGGGACAGAT	0.552																																						uc003nib.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(1396-1398)ATG>ATA		butyrophilin, subfamily 2, member A1 isoform 1							171.0	139.0	150.0					6																	26468591		2203	4298	6501	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26468591G>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1398G>A	6.37:g.26468591G>A	ENSP00000312158:p.Met466Ile					BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.M314I|BTN2A1_uc011dko.1_Missense_Mutation_p.M405I|BTN2A1_uc010jqk.1_Missense_Mutation_p.M226I	p.M466I	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			8	1610	+			466			Cytoplasmic (Potential).|B30.2/SPRY.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.1398G>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859965	0.32884	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000265424	T;T	0.68479	-0.33;-0.33	2.72	2.72	0.32119	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	T	0.56247	0.1972	L	0.45581	1.43	0.20196	N	0.999925	B;P	0.43287	0.413;0.802	B;P	0.51101	0.326;0.659	T	0.50303	-0.8844	10	0.72032	D	0.01	.	11.5866	0.50923	0.0:0.0:1.0:0.0	.	405;466	B4DLP9;Q7KYR7	.;BT2A1_HUMAN	I	466;405;452	ENSP00000312158:M466I;ENSP00000443909:M405I	ENSP00000265424:M452I	M	+	3	0	BTN2A1	26576570	0.000000	0.05858	0.850000	0.33497	0.986000	0.74619	0.041000	0.13927	1.834000	0.53371	0.491000	0.48974	ATG		0.552	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2		NM_007049		5	163	0	0	0	0.001168	0	5	163		
OR2B6	26212	broad.mit.edu	37	6	27925387	27925387	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:27925387T>A	ENST00000244623.1	+	1	369	c.369T>A	c.(367-369)ttT>ttA	p.F123L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F123L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATAGGTTTGTAGCTATTT	0.473																																						uc011dkx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(367-369)TTT>TTA		olfactory receptor, family 2, subfamily B,							86.0	86.0	86.0					6																	27925387		2203	4299	6502	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925387T>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.369T>A	6.37:g.27925387T>A	ENSP00000244623:p.Phe123Leu						p.F123L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	369	+			123			Cytoplasmic (Potential).		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.369T>A	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	t	13.31	2.200024	0.38905	.	.	ENSG00000124657	ENST00000244623	T	0.01359	4.98	3.68	-2.78	0.05859	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34652	U	0.003793	T	0.00784	0.0026	M	0.62723	1.935	0.23632	N	0.997242	P	0.38420	0.63	B	0.39840	0.311	T	0.41088	-0.9528	10	0.87932	D	0	.	9.462	0.38789	0.0:0.5181:0.0:0.4819	.	123	P58173	OR2B6_HUMAN	L	123	ENSP00000244623:F123L	ENSP00000244623:F123L	F	+	3	2	OR2B6	28033366	0.007000	0.16637	0.954000	0.39281	0.391000	0.30476	-0.681000	0.05191	-0.471000	0.06891	-1.098000	0.02139	TTT		0.473	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1				40	155	0	0	0	0.00623	0	40	155		
SYNGAP1	8831	broad.mit.edu	37	6	33391253	33391253	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:33391253G>C	ENST00000418600.2	+	2	168		c.e2-1		SYNGAP1_ENST00000496374.1_Splice_Site|SYNGAP1_ENST00000293748.5_Splice_Site	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTGTCCTCCAGATGTACGGGG	0.522																																						uc011dri.1		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(4)	4						c.e2-1		synaptic Ras GTPase activating protein 1							238.0	210.0	219.0					6																	33391253		2203	4300	6503	SO:0001630	splice_region_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33391253G>C	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.68-1G>C	6.37:g.33391253G>C						SYNGAP1_uc003oeo.1_Splice_Site_p.D8_splice|SYNGAP1_uc010juy.2_Splice_Site_p.D8_splice	p.D23_splice	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			2	263	+								A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Splice_Site	SNP	ENST00000418600.2	37	c.68_splice	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247609	0.59103	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4332	0.61068	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNGAP1	33499231	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.424000	0.66464	2.098000	0.63641	0.555000	0.69702	.		0.522	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		XM_166407	Intron	63	185	0	0	0	0.01441	0	63	185		
MLIP	90523	broad.mit.edu	37	6	54025594	54025594	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:54025594C>G	ENST00000274897.5	+	7	1004	c.891C>G	c.(889-891)gtC>gtG	p.V297V	MLIP_ENST00000370877.2_Silent_p.V193V|MLIP_ENST00000502396.1_Silent_p.V832V|MLIP_ENST00000514921.1_Silent_p.V821V|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	297						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.V297V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGACACAGTCAAAGTATGTA	0.328																																						uc003pcg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(889-891)GTC>GTG		hypothetical protein LOC90523							41.0	42.0	42.0					6																	54025594		2202	4300	6502	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:54025594C>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.891C>G	6.37:g.54025594C>G						C6orf142_uc003pcf.2_Silent_p.V821V|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.V832V	p.V297V	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			7	1004	+	Lung NSC(77;0.0317)		297					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.891C>G	CCDS4954.1																																																																																				0.328	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3		NM_138569		7	85	0	0	0	0.004482	0	7	85		
COL19A1	1310	broad.mit.edu	37	6	70639365	70639365	+	Missense_Mutation	SNP	C	C	G	rs550061144		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:70639365C>G	ENST00000322773.4	+	6	541	c.439C>G	c.(439-441)Caa>Gaa	p.Q147E		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	147	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.Q147E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTATGTTTCAAGCCACAGA	0.338													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0					uc003pfc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)	4						c.(439-441)CAA>GAA		alpha 1 type XIX collagen precursor							97.0	97.0	97.0					6																	70639365		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639365C>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.439C>G	6.37:g.70639365C>G	ENSP00000316030:p.Gln147Glu					COL19A1_uc010kam.1_Missense_Mutation_p.Q43E	p.Q147E	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	556	+			147			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.439C>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	6.173	0.400134	0.11696	.	.	ENSG00000082293	ENST00000322773	T	0.13307	2.6	5.3	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	1.500290	0.04269	N	0.341674	T	0.03959	0.0111	L	0.39898	1.24	0.20563	N	0.999889	B	0.20887	0.049	B	0.16722	0.016	T	0.43130	-0.9410	10	0.08599	T	0.76	.	8.4976	0.33138	0.2463:0.6766:0.0:0.0772	.	147	Q14993	COJA1_HUMAN	E	147	ENSP00000316030:Q147E	ENSP00000316030:Q147E	Q	+	1	0	COL19A1	70696086	0.214000	0.23563	0.826000	0.32828	0.500000	0.33767	1.240000	0.32731	2.474000	0.83562	0.467000	0.42956	CAA		0.338	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				4	66	0	0	0	0.001984	0	4	66		
MYO6	4646	broad.mit.edu	37	6	76576333	76576333	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:76576333G>A	ENST00000369977.3	+	17	1904	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	MYO6_ENST00000369985.4_Missense_Mutation_p.E589K|RNA5SP209_ENST00000411237.1_RNA|snoU13_ENST00000459013.1_RNA|MYO6_ENST00000369975.1_Missense_Mutation_p.E589K|MYO6_ENST00000369981.3_Missense_Mutation_p.E589K	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	589	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.E589K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGTGTGCTATGAAACAGTGAG	0.393																																						uc003pih.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)|pancreas(1)	2						c.(1765-1767)GAA>AAA		myosin VI							86.0	84.0	85.0					6																	76576333		2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76576333G>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1765G>A	6.37:g.76576333G>A	ENSP00000358994:p.Glu589Lys					MYO6_uc003pig.1_Missense_Mutation_p.E589K|MYO6_uc003pii.1_Missense_Mutation_p.E589K	p.E589K	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	17	2044	+		all_hematologic(105;0.189)	589			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.1765G>A	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309507	0.81247	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	L	0.28694	0.88	0.80722	D	1	P;D	0.76494	0.675;0.999	B;D	0.79784	0.259;0.993	T	0.71715	-0.4509	10	0.41790	T	0.15	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	589;589	Q9UM54-2;Q9UM54-1	.;.	K	589	ENSP00000358998:E589K;ENSP00000359002:E589K;ENSP00000358994:E589K;ENSP00000358992:E589K	ENSP00000358992:E589K	E	+	1	0	MYO6	76633053	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.482000	0.81143	2.809000	0.96659	0.655000	0.94253	GAA		0.393	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2		NM_004999		8	62	0	0	0	0.00308	0	8	62		
GPR63	81491	broad.mit.edu	37	6	97247160	97247160	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:97247160C>T	ENST00000229955.3	-	2	793	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	GPR63_ENST00000417980.1_Missense_Mutation_p.G150R	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.G150R(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGAATTTCCCAAAAATCCAT	0.418																																						uc010kcl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(448-450)GGG>AGG		G protein-coupled receptor 63							68.0	71.0	70.0					6																	97247160		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97247160C>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.448G>A	6.37:g.97247160C>T	ENSP00000229955:p.Gly150Arg					GPR63_uc003pou.2_Missense_Mutation_p.G150R	p.G150R	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	926	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	150			Extracellular (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.448G>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.742904	0.69418	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.50548	0.74;0.74;0.74	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80034	-0.1551	10	0.87932	D	0	-2.5226	18.3028	0.90169	0.0:1.0:0.0:0.0	.	150	Q9BZJ6	GPR63_HUMAN	R	174;150;150;150	ENSP00000393170:G150R;ENSP00000229955:G150R;ENSP00000358273:G150R	ENSP00000229955:G150R	G	-	1	0	GPR63	97353881	1.000000	0.71417	0.994000	0.49952	0.779000	0.44077	7.445000	0.80570	2.403000	0.81681	0.555000	0.69702	GGG		0.418	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2				22	56	0	0	0	0.014323	0	22	56		
FOXO3	2309	broad.mit.edu	37	6	108985341	108985341	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:108985341C>T	ENST00000343882.6	+	3	1609	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	FOXO3_ENST00000540898.1_Silent_p.F215F|FOXO3_ENST00000406360.1_Silent_p.F435F	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	435					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F435F(2)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GCACGGTGTTCGGACCTTCAT	0.572																																						uc003psk.2		NaN																	2	Substitution - coding silent(2)	p.F435F(1)	urinary_tract(1)|central_nervous_system(1)	central_nervous_system(4)|lung(2)	6						c.(1303-1305)TTC>TTT		forkhead box O3A							89.0	87.0	88.0					6																	108985341		2203	4300	6503	SO:0001819	synonymous_variant	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985341C>T	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1305C>T	6.37:g.108985341C>T						FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.F435F|FOXO3_uc011ean.1_Silent_p.F215F|FOXO3_uc010kdj.1_Silent_p.F215F	p.F435F	NM_201559	NP_963853	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	3	1621	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	435					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	ENST00000343882.6	37	c.1305C>T	CCDS5068.1																																																																																				0.572	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2				4	114	0	0	0	0.000602	0	4	114		
CEP85L	387119	broad.mit.edu	37	6	118791768	118791768	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:118791768G>C	ENST00000368491.3	-	11	2575	c.1954C>G	c.(1954-1956)Caa>Gaa	p.Q652E	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q655E	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	652						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q652E(1)									ATCATCTTTTGAGTGGTCAGT	0.308																																						uc003pxz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1954-1956)CAA>GAA		chromosome 6 open reading frame 204 isoform a							103.0	99.0	100.0					6																	118791768		1807	4064	5871	SO:0001583	missense	387119					centrosome		g.chr6:118791768G>C	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1954C>G	6.37:g.118791768G>C	ENSP00000357477:p.Gln652Glu						p.Q652E	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	11	2542	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	652			Potential.		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1954C>G	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177128	0.21787	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.11169	2.8;2.8	5.69	4.79	0.61399	.	0.294231	0.32231	N	0.006390	T	0.03053	0.0090	L	0.28400	0.85	0.25174	N	0.990256	B	0.10296	0.003	B	0.08055	0.003	T	0.33650	-0.9860	10	0.14252	T	0.57	-2.9128	15.0764	0.72080	0.0:0.1406:0.8594:0.0	.	652	Q5SZL2	CF204_HUMAN	E	652;655	ENSP00000357477:Q652E;ENSP00000357474:Q655E	ENSP00000357474:Q655E	Q	-	1	0	C6orf204	118898461	1.000000	0.71417	0.985000	0.45067	0.165000	0.22458	2.215000	0.42862	2.687000	0.91594	0.655000	0.94253	CAA		0.308	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2		NM_001042475		5	118	0	0	0	0.001984	0	5	118		
VNN2	8875	broad.mit.edu	37	6	133070857	133070857	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:133070857G>A	ENST00000326499.6	-	6	1472	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	VNN2_ENST00000525289.1_Missense_Mutation_p.H229Y|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.H397Y	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	450					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.H450Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GGTGACAGATGAATTTCGGTA	0.378																																						uc003qdt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1348-1350)CAT>TAT		vanin 2 isoform 1 precursor							63.0	59.0	60.0					6																	133070857		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133070857G>A	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1348C>T	6.37:g.133070857G>A	ENSP00000322276:p.His450Tyr					VNN2_uc003qds.2_Missense_Mutation_p.H159Y|VNN2_uc010kgb.2_Missense_Mutation_p.H229Y|VNN2_uc003qdv.2_Missense_Mutation_p.H397Y	p.H450Y	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	6	1359	-			450					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1348C>T	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084777	0.36758	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.88277	-2.36;-2.36;-2.36	5.29	1.09	0.20402	.	0.795132	0.11351	N	0.572928	T	0.67468	0.2896	L	0.29908	0.895	0.09310	N	1	P;B	0.37864	0.61;0.392	B;B	0.37888	0.26;0.158	T	0.59096	-0.7518	10	0.41790	T	0.15	-0.865	5.0347	0.14428	0.0733:0.12:0.5222:0.2845	.	229;450	O95498-2;O95498	.;VNN2_HUMAN	Y	450;397;229	ENSP00000322276:H450Y;ENSP00000436822:H397Y;ENSP00000436935:H229Y	ENSP00000322276:H450Y	H	-	1	0	VNN2	133112550	0.651000	0.27340	0.001000	0.08648	0.361000	0.29550	1.981000	0.40628	0.172000	0.19760	-0.140000	0.14226	CAT		0.378	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2				4	60	0	0	0	0.009096	0	4	60		
BCLAF1	9774	broad.mit.edu	37	6	136589449	136589449	+	Missense_Mutation	SNP	G	G	C	rs147719127		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:136589449G>C	ENST00000531224.1	-	10	2500	c.2248C>G	c.(2248-2250)Cga>Gga	p.R750G	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R577G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R750G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R748G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R748G|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R748G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2248-2250)CGA>GGA		BCL2-associated transcription factor 1 isoform							101.0	87.0	92.0					6																	136589449		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589449G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2248C>G	6.37:g.136589449G>C	ENSP00000435210:p.Arg750Gly					BCLAF1_uc011edb.1_Missense_Mutation_p.R78G|BCLAF1_uc003qgw.1_Missense_Mutation_p.R577G|BCLAF1_uc003qgy.1_Missense_Mutation_p.R748G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R748G	p.R750G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2501	-	Colorectal(23;0.24)		750			Poly-Ser.		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2248C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000542	0.54254	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52	4.97	4.07	0.47477	.	0.000000	0.47852	D	0.000213	T	0.16811	0.0404	L	0.47190	1.495	0.35439	D	0.794728	D;D;D;D;D	0.71674	0.991;0.998;0.991;0.991;0.991	P;D;P;P;P	0.69654	0.771;0.965;0.771;0.771;0.771	T	0.01904	-1.1250	10	0.45353	T	0.12	-3.7893	12.524	0.56075	0.0:0.0:0.612:0.388	.	748;78;748;750;577	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	G	750;748;750;577;748;748	ENSP00000435210:R750G;ENSP00000229446:R748G;ENSP00000435441:R750G;ENSP00000436501:R577G;ENSP00000434826:R748G;ENSP00000376159:R748G	ENSP00000229446:R748G	R	-	1	2	BCLAF1	136631142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.833000	0.39161	1.190000	0.43042	0.484000	0.47621	CGA		0.338	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		5	111	0	0	0	0.000602	0	5	111		
BCLAF1	9774	broad.mit.edu	37	6	136599168	136599168	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:136599168T>C	ENST00000531224.1	-	4	1103	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	BCLAF1_ENST00000530767.1_Missense_Mutation_p.Y284C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Y284C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Y282C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Y282C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Y282C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	284					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Y284C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAAGGACTGTATCGACTAGA	0.453																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(850-852)TAC>TGC		BCL2-associated transcription factor 1 isoform							106.0	93.0	98.0					6																	136599168		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599168T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.851A>G	6.37:g.136599168T>C	ENSP00000435210:p.Tyr284Cys					BCLAF1_uc003qgw.1_Missense_Mutation_p.Y284C|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y282C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y282C	p.Y284C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1104	-	Colorectal(23;0.24)		284					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.851A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383482	0.42207	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000014	T	0.14874	0.0359	N	0.08118	0	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.993;0.993;0.993;0.993	T	0.35001	-0.9806	10	0.51188	T	0.08	-8.1761	16.182	0.81915	0.0:0.0:0.0:1.0	.	282;282;284;284	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	C	284;282;284;284;282;282;284	ENSP00000435210:Y284C;ENSP00000229446:Y282C;ENSP00000435441:Y284C;ENSP00000436501:Y284C;ENSP00000434826:Y282C;ENSP00000376159:Y282C;ENSP00000431734:Y284C	ENSP00000229446:Y282C	Y	-	2	0	BCLAF1	136640861	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	5.767000	0.68850	2.222000	0.72286	0.528000	0.53228	TAC		0.453	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2		NM_014739		9	86	0	0	0	0.004482	0	9	86		
VTA1	51534	broad.mit.edu	37	6	142487389	142487389	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:142487389G>C	ENST00000367630.4	+	2	195	c.137G>C	c.(136-138)gGa>gCa	p.G46A	VTA1_ENST00000367621.1_Intron|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	46	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.G46A(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATGCAGACTGGAATGAAGATC	0.294																																						uc003qiw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(136-138)GGA>GCA		Vps20-associated 1 homolog							110.0	112.0	111.0					6																	142487389		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142487389G>C	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.137G>C	6.37:g.142487389G>C	ENSP00000356602:p.Gly46Ala					VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron	p.G46A	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	2	152	+	Breast(32;0.155)		46			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.137G>C	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260571	0.80246	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.44083	0.93	5.22	5.22	0.72569	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.38649	1.16	0.80722	D	1	D	0.55172	0.97	P	0.57057	0.812	T	0.05146	-1.0903	10	0.15066	T	0.55	-18.2418	18.7828	0.91941	0.0:0.0:1.0:0.0	.	46	Q9NP79	VTA1_HUMAN	A	46;47	ENSP00000356602:G46A	ENSP00000356602:G46A	G	+	2	0	VTA1	142529082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.470000	0.90399	2.406000	0.81754	0.655000	0.94253	GGA		0.294	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2		NM_016485		3	100	0	0	0	0.004672	0	3	100		
LATS1	9113	broad.mit.edu	37	6	150005065	150005065	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:150005065G>A	ENST00000543571.1	-	4	1707	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	LATS1_ENST00000392273.3_Missense_Mutation_p.S387F|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.S387F	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.S387F(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGTAAAGCAGAAGGGCTTTG	0.453																																						uc003qmu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(5)|central_nervous_system(1)	6						c.(1159-1161)TCT>TTT		LATS homolog 1							76.0	76.0	76.0					6																	150005065		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005065G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1160C>T	6.37:g.150005065G>A	ENSP00000437550:p.Ser387Phe					LATS1_uc010kif.1_Missense_Mutation_p.S282F|LATS1_uc003qmv.1_Missense_Mutation_p.S387F|LATS1_uc003qmw.2_Missense_Mutation_p.S387F|LATS1_uc010kig.1_Missense_Mutation_p.S282F	p.S387F	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1708	-		Ovarian(120;0.0164)	387						Missense_Mutation	SNP	ENST00000543571.1	37	c.1160C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	7.403	0.633128	0.14322	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.53857	0.6;0.6;3.18	5.39	3.45	0.39498	.	0.272209	0.26196	N	0.025777	T	0.23370	0.0565	N	0.08118	0	0.41168	D	0.986146	B;P;B	0.44946	0.205;0.846;0.068	B;P;B	0.44990	0.029;0.466;0.032	T	0.08249	-1.0731	9	.	.	.	.	17.2071	0.86921	0.0:0.2537:0.7463:0.0	.	239;387;387	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	F	387	ENSP00000437550:S387F;ENSP00000253339:S387F;ENSP00000444678:S387F	.	S	-	2	0	LATS1	150046758	1.000000	0.71417	0.992000	0.48379	0.743000	0.42351	6.036000	0.70948	1.239000	0.43787	0.655000	0.94253	TCT		0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690		19	129	0	0	0	0.007413	0	19	129		
LATS1	9113	broad.mit.edu	37	6	150005361	150005361	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:150005361G>C	ENST00000543571.1	-	4	1411	c.864C>G	c.(862-864)atC>atG	p.I288M	LATS1_ENST00000392273.3_Missense_Mutation_p.I288M|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.I288M	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.I288M(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGACAGGAGAGATTCGGGAGA	0.517																																						uc003qmu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(5)|central_nervous_system(1)	6						c.(862-864)ATC>ATG		LATS homolog 1							146.0	138.0	141.0					6																	150005361		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005361G>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.864C>G	6.37:g.150005361G>C	ENSP00000437550:p.Ile288Met					LATS1_uc010kif.1_Missense_Mutation_p.I183M|LATS1_uc003qmv.1_Missense_Mutation_p.I288M|LATS1_uc003qmw.2_Missense_Mutation_p.I288M|LATS1_uc010kig.1_Missense_Mutation_p.I183M	p.I288M	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1412	-		Ovarian(120;0.0164)	288						Missense_Mutation	SNP	ENST00000543571.1	37	c.864C>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616572	0.14129	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.53423	0.62;0.62;3.18	5.28	2.08	0.27032	.	0.000000	0.56097	D	0.000022	T	0.06872	0.0175	N	0.04508	-0.205	0.39868	D	0.973479	B;P;B	0.38597	0.144;0.639;0.144	B;B;B	0.32928	0.022;0.155;0.014	T	0.06481	-1.0824	9	.	.	.	.	3.2498	0.06810	0.4566:0.2183:0.3251:0.0	.	140;288;288	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	M	288	ENSP00000437550:I288M;ENSP00000253339:I288M;ENSP00000444678:I288M	.	I	-	3	3	LATS1	150047054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.898000	0.28404	0.621000	0.30232	0.655000	0.94253	ATC		0.517	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690		17	159	0	0	0	0.004007	0	17	159		
DNAH11	8701	broad.mit.edu	37	7	21775305	21775305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:21775305G>A	ENST00000409508.3	+	46	7519	c.7488G>A	c.(7486-7488)atG>atA	p.M2496I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2503I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2503	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M2503I(1)		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						GATATTTCATGGAGTTGTTGC	0.443									Kartagener syndrome																													uc003svc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7507-7509)ATG>ATA		dynein, axonemal, heavy chain 11							97.0	92.0	93.0					7																	21775305		1876	4119	5995	SO:0001583	missense	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.chr7:21775305G>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.7488G>A	7.37:g.21775305G>A	ENSP00000475939:p.Met2496Ile						p.M2503I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			47	7540	+			2503			AAA 3 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7509G>A		.	.	.	.	.	.	.	.	.	.	G	7.400	0.632611	0.14322	.	.	ENSG00000105877	ENST00000328843	T	0.39406	1.08	5.03	-10.1	0.00402	.	1.086360	0.06917	N	0.808665	T	0.16642	0.0400	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10753	-1.0616	9	0.22706	T	0.39	.	2.1546	0.03809	0.153:0.2022:0.3566:0.2882	.	2503	Q96DT5	DYH11_HUMAN	I	2503	ENSP00000330671:M2503I	ENSP00000330671:M2503I	M	+	3	0	DNAH11	21741830	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.558000	0.05978	-1.505000	0.01807	-0.953000	0.02652	ATG		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		5	36	0	0	0	0.000602	0	5	36		
STK31	56164	broad.mit.edu	37	7	23810677	23810677	+	Silent	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:23810677G>T	ENST00000355870.3	+	14	1886	c.1767G>T	c.(1765-1767)ctG>ctT	p.L589L	STK31_ENST00000428484.1_Silent_p.L566L|STK31_ENST00000433467.2_Silent_p.L589L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.L566L	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	589						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.L589L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTCAAGTACTGCAAAAGATTC	0.338																																						uc003sws.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1765-1767)CTG>CTT		serine/threonine kinase 31 isoform a							175.0	177.0	176.0					7																	23810677		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23810677G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1767G>T	7.37:g.23810677G>T						STK31_uc003swt.3_Silent_p.L566L|STK31_uc011jze.1_Silent_p.L589L|STK31_uc010kuq.2_Silent_p.L566L	p.L589L	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			14	1834	+			589					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.1767G>T	CCDS5386.1																																																																																				0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414		62	140	1	0	2.3441e-25	0.01441	2.55874e-25	62	140		
HOXA1	3198	broad.mit.edu	37	7	27135406	27135406	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:27135406G>A	ENST00000343060.4	-	1	187	c.126C>T	c.(124-126)gtC>gtT	p.V42V	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.V42V	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	42					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.V42V(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTTGGCGCTGACCGCGCACG	0.647											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003sye.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(124-126)GTC>GTT		homeobox A1 isoform a							57.0	63.0	61.0					7																	27135406		2203	4300	6503	SO:0001819	synonymous_variant	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135406G>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.126C>T	7.37:g.27135406G>A			OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_uc003syd.2_Silent_p.V42V|uc003syg.2_5'Flank	p.V42V	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	220	-			42					A4D184|B2R8U7|O43363	Silent	SNP	ENST00000343060.4	37	c.126C>T	CCDS5401.1																																																																																				0.647	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1				10	104	0	0	0	0.010729	0	10	104		
Unknown	0	broad.mit.edu	37	7	63667599	63667599	+	IGR	SNP	C	C	T	rs553468709		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:63667599C>T								GUSBP6 (56500 upstream) : ZNF679 (21252 downstream)																							AAGACCGGGACCCCCTGGAAG	0.562																																						uc011kdn.1		NaN																	0					0						c.(19-21)CCC>TCC		zinc finger protein 735							56.0	46.0	49.0					7																	63667599		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63667599C>T																													7.37:g.63667599C>T							p.P7S	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			1	19	+			7						Missense_Mutation	SNP		37	c.19C>T																																																																																				0	0.562										4	50	0	0	0	0.001984	0	4	50		
PPP1R9A	55607	broad.mit.edu	37	7	94915637	94915637	+	Splice_Site	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:94915637G>T	ENST00000433881.1	+	13	3409	c.2877G>T	c.(2875-2877)gaG>gaT	p.E959D	PPP1R9A_ENST00000340694.4_Splice_Site_p.E959D|PPP1R9A_ENST00000289495.5_Splice_Site_p.E1165D|PPP1R9A_ENST00000424654.1_Splice_Site_p.E1183D|PPP1R9A_ENST00000433360.1_Splice_Site_p.E1243D|PPP1R9A_ENST00000456331.2_Splice_Site_p.E1183D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	959	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.E1183D(1)|p.E1243D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCAGATGAGGTAATTCCAT	0.458										HNSCC(28;0.073)																												uc003unp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2875-2877)GAG>GAT		protein phosphatase 1, regulatory (inhibitor)							78.0	66.0	70.0					7																	94915637		2203	4300	6503	SO:0001630	splice_region_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94915637G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2877+1G>T	7.37:g.94915637G>T		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.E1243D|PPP1R9A_uc011kif.1_Missense_Mutation_p.E1165D|PPP1R9A_uc003unq.2_Missense_Mutation_p.E1183D|PPP1R9A_uc011kig.1_Missense_Mutation_p.E959D|PPP1R9A_uc003unr.2_Missense_Mutation_p.E256D	p.E959D	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	3159	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		959			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2877G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412004	0.83340	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.19105	2.19;2.33;2.26;2.33;2.17;2.26	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.46157	1.445	0.58432	D	0.999997	P;D;D;D;D;D	0.76494	0.611;0.994;0.998;0.999;0.999;0.999	B;P;D;D;D;D	0.78314	0.205;0.85;0.972;0.991;0.991;0.991	T	0.14282	-1.0478	10	0.62326	D	0.03	.	19.1109	0.93315	0.0:0.0:1.0:0.0	.	959;1165;1243;1183;1183;959	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	D	1243;959;1183;959;1165;1183	ENSP00000405514:E1243D;ENSP00000344524:E959D;ENSP00000411342:E1183D;ENSP00000398870:E959D;ENSP00000289495:E1165D;ENSP00000402893:E1183D	ENSP00000289495:E1165D	E	+	3	2	PPP1R9A	94753573	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	8.538000	0.90634	2.827000	0.97445	0.655000	0.94253	GAG		0.458	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160	Missense_Mutation	4	85	1	0	0.00024832	0.009096	0.000258595	4	85		
SRRT	51593	broad.mit.edu	37	7	100482607	100482607	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:100482607G>A	ENST00000347433.4	+	9	1263	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	SRRT_ENST00000457580.2_Missense_Mutation_p.E369K|SRRT_ENST00000432932.1_Missense_Mutation_p.E369K|SRRT_ENST00000388793.4_Missense_Mutation_p.E369K			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	369	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E369K(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCGTGTCAGAGTCTGAGTC	0.577																																						uc003uwy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1105-1107)GAG>AAG		arsenate resistance protein 2 isoform a							159.0	180.0	173.0					7																	100482607		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482607G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1105G>A	7.37:g.100482607G>A	ENSP00000314491:p.Glu369Lys					SRRT_uc010lhl.1_Missense_Mutation_p.E369K|SRRT_uc003uxa.2_Missense_Mutation_p.E369K|SRRT_uc003uwz.2_Missense_Mutation_p.E369K	p.E369K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			10	1373	+			369			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1105G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416023	0.42817	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.48162	0.906;0.906;0.906;0.849	P;P;P;B	0.45971	0.499;0.499;0.499;0.303	T	0.15350	-1.0440	10	0.31617	T	0.26	.	16.079	0.80989	0.0:0.0:1.0:0.0	.	369;369;369;369	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	K	369	ENSP00000416553:E369K;ENSP00000373445:E369K;ENSP00000391852:E369K;ENSP00000314491:E369K	ENSP00000314491:E369K	E	+	1	0	SRRT	100320543	1.000000	0.71417	0.926000	0.36857	0.211000	0.24417	8.427000	0.90275	2.387000	0.81309	0.655000	0.94253	GAG		0.577	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908		6	274	0	0	0	0.001168	0	6	274		
TRIM56	81844	broad.mit.edu	37	7	100731650	100731650	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:100731650G>C	ENST00000306085.6	+	3	1354	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	353					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E353Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCACAGCTGGAGCTCCATCC	0.662																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(1057-1059)GAG>CAG		tripartite motif-containing 56							18.0	21.0	20.0					7																	100731650		1918	4131	6049	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731650G>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1057G>C	7.37:g.100731650G>C	ENSP00000305161:p.Glu353Gln					TRIM56_uc003uxr.2_Intron	p.E353Q	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	1288	+	Lung NSC(181;0.136)|all_lung(186;0.182)		353					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1057G>C	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448510	0.26074	.	.	ENSG00000169871	ENST00000306085	T	0.42131	0.98	3.58	2.69	0.31865	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.30193	N	0.799299	P	0.35155	0.487	B	0.31869	0.137	T	0.11012	-1.0605	9	0.41790	T	0.15	.	6.902	0.24288	0.1269:0.0:0.8731:0.0	.	353	Q9BRZ2	TRI56_HUMAN	Q	353	ENSP00000305161:E353Q	ENSP00000305161:E353Q	E	+	1	0	TRIM56	100518370	0.968000	0.33430	0.998000	0.56505	0.828000	0.46876	1.258000	0.32944	1.056000	0.40484	0.455000	0.32223	GAG		0.662	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1		NM_030961		4	8	0	0	0	0.009096	0	4	8		
SND1	27044	broad.mit.edu	37	7	127341354	127341354	+	Nonsense_Mutation	SNP	C	C	G	rs34667910		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:127341354C>G	ENST00000354725.3	+	5	760	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	189					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.S189*(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTTGTGGACTCACACCACCAG	0.483																																						uc003vmi.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(565-567)TCA>TGA		staphylococcal nuclease domain containing 1							102.0	93.0	96.0					7																	127341354		2203	4300	6503	SO:0001587	stop_gained	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127341354C>G		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.566C>G	7.37:g.127341354C>G	ENSP00000346762:p.Ser189*						p.S189*	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			5	792	+			189					Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	c.566C>G	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	36	5.819677	0.96982	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	.	.	.	5.64	5.64	0.86602	.	0.166462	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.7082	17.5582	0.87898	0.0:1.0:0.0:0.0	.	.	.	.	X	189;179	.	ENSP00000346762:S189X	S	+	2	0	SND1	127128590	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	7.515000	0.81761	2.820000	0.97059	0.650000	0.86243	TCA		0.483	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390		6	73	0	0	0	0.001168	0	6	73		
CEP41	95681	broad.mit.edu	37	7	130067815	130067815	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:130067815G>C	ENST00000223208.5	-	2	348	c.78C>G	c.(76-78)atC>atG	p.I26M	CEP41_ENST00000541543.1_Missense_Mutation_p.I26M|CEP41_ENST00000489512.1_Missense_Mutation_p.I26M|CEP41_ENST00000495702.1_5'UTR|CEP41_ENST00000343969.5_Missense_Mutation_p.I26M	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	26					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.I26M(1)									GTCTTGATTTGATATGCTGGT	0.313																																						uc003vpz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(76-78)ATC>ATG		testis specific, 14							86.0	85.0	85.0					7																	130067815		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130067815G>C	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.78C>G	7.37:g.130067815G>C	ENSP00000223208:p.Ile26Met					TSGA14_uc010lmf.2_Translation_Start_Site|TSGA14_uc003vqa.2_Missense_Mutation_p.I26M|TSGA14_uc011kpg.1_Missense_Mutation_p.I26M|TSGA14_uc003vqb.1_RNA	p.I26M	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			2	125	-	Melanoma(18;0.0435)		26					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.78C>G	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581692	0.46006	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000477003;ENST00000469826;ENST00000489512	D;D;D;D;T	0.90844	-2.74;-2.32;-2.7;-2.38;-1.39	5.68	2.9	0.33743	.	0.336115	0.31566	N	0.007427	D	0.89522	0.6739	L	0.59436	1.845	0.29948	N	0.820479	P;B;P	0.42203	0.773;0.367;0.549	P;B;B	0.48840	0.592;0.426;0.245	D	0.85431	0.1149	10	0.87932	D	0	-1.9403	5.381	0.16192	0.1679:0.0:0.6711:0.161	.	26;26;26	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	M	26;26;26;23;13;26	ENSP00000223208:I26M;ENSP00000445888:I26M;ENSP00000342738:I26M;ENSP00000420670:I23M;ENSP00000418712:I13M	ENSP00000223208:I26M	I	-	3	3	TSGA14	129855051	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.415000	0.52700	0.333000	0.23563	-0.229000	0.12294	ATC		0.313	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2		NM_018718		28	56	0	0	0	0.012213	0	28	56		
TRPV5	56302	broad.mit.edu	37	7	142605898	142605898	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:142605898C>T	ENST00000265310.1	-	15	2320	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	658					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.D658N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTGGTCATCCTCCTTGTCT	0.532																																						uc003wby.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1972-1974)GAT>AAT		transient receptor potential cation channel,							75.0	70.0	72.0					7																	142605898		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142605898C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1972G>A	7.37:g.142605898C>T	ENSP00000265310:p.Asp658Asn						p.D658N	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			15	2236	-	Melanoma(164;0.059)		658			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1972G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739486	0.30774	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.79940	-1.32;-1.3	4.84	4.84	0.62591	.	1.069180	0.07151	N	0.849002	T	0.74504	0.3725	L	0.42686	1.345	0.80722	D	1	B	0.17852	0.024	B	0.15870	0.014	T	0.63409	-0.6644	10	0.34782	T	0.22	-14.2637	8.2697	0.31836	0.0:0.891:0.0:0.109	.	658	Q9NQA5	TRPV5_HUMAN	N	658;603	ENSP00000265310:D658N;ENSP00000406361:D603N	ENSP00000265310:D658N	D	-	1	0	TRPV5	142316020	0.894000	0.30519	0.994000	0.49952	0.262000	0.26303	1.646000	0.37249	2.534000	0.85438	0.655000	0.94253	GAT		0.532	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841		6	66	0	0	0	0.001168	0	6	66		
TAS2R60	338398	broad.mit.edu	37	7	143141483	143141483	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:143141483C>T	ENST00000332690.1	+	1	938	c.938C>T	c.(937-939)tCa>tTa	p.S313L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	313					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S313L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CGTCGTTCCTCAAGGTGTGGG	0.502																																						uc011ktg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(6)	6						c.(937-939)TCA>TTA		taste receptor, type 2, member 60							89.0	85.0	86.0					7																	143141483		2203	4299	6502	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141483C>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.938C>T	7.37:g.143141483C>T	ENSP00000327724:p.Ser313Leu					uc003wda.2_Intron	p.S313L	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	938	+	Melanoma(164;0.172)		313			Cytoplasmic (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.938C>T	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849456	0.32699	.	.	ENSG00000185899	ENST00000332690	T	0.36520	1.25	5.58	-0.0444	0.13855	.	3.079500	0.01782	U	0.031829	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.16630	-1.0396	10	0.07482	T	0.82	.	5.3971	0.16275	0.0:0.4749:0.1515:0.3737	.	313	P59551	T2R60_HUMAN	L	313	ENSP00000327724:S313L	ENSP00000327724:S313L	S	+	2	0	TAS2R60	142851605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.202000	0.09451	0.043000	0.15746	-0.218000	0.12543	TCA		0.502	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1				10	118	0	0	0	0.010729	0	10	118		
OR6B1	135946	broad.mit.edu	37	7	143701967	143701967	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:143701967G>A	ENST00000408922.2	+	1	946	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTAAGAAACCGAGAGGTCAAG	0.433																																						uc003wdt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(877-879)CGA>CAA		olfactory receptor, family 6, subfamily B,							61.0	58.0	59.0					7																	143701967		1883	4104	5987	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701967G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.878G>A	7.37:g.143701967G>A	ENSP00000386151:p.Arg293Gln						p.R293Q	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	878	+	Melanoma(164;0.0783)		293			Cytoplasmic (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.878G>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607796	0.28623	.	.	ENSG00000221813	ENST00000408922	T	0.38401	1.14	5.11	3.24	0.37175	.	0.946580	0.08546	N	0.929836	T	0.24736	0.0600	N	0.20357	0.565	0.24481	N	0.994348	B	0.09022	0.002	B	0.08055	0.003	T	0.14587	-1.0467	10	0.36615	T	0.2	.	9.1058	0.36696	0.0828:0.1467:0.7705:0.0	.	293	O95007	OR6B1_HUMAN	Q	293	ENSP00000386151:R293Q	ENSP00000386151:R293Q	R	+	2	0	OR6B1	143332900	0.004000	0.15560	0.997000	0.53966	0.992000	0.81027	0.575000	0.23729	1.402000	0.46780	-0.126000	0.14955	CGA		0.433	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1				12	73	0	0	0	0.010729	0	12	73		
CNTNAP2	26047	broad.mit.edu	37	7	146536942	146536942	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:146536942C>G	ENST00000361727.3	+	3	864	c.348C>G	c.(346-348)ctC>ctG	p.L116L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	116	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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.L116L(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)			ACCGGATGCTCTACAGCGACA	0.468										HNSCC(39;0.1)																												uc003weu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(346-348)CTC>CTG		cell recognition molecule Caspr2 precursor							97.0	89.0	92.0					7																	146536942		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:146536942C>G	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.348C>G	7.37:g.146536942C>G		HNSCC(39;0.1)					p.L116L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	864	+	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)	116			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.348C>G	CCDS5889.1																																																																																				0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				5	38	0	0	0	0.000602	0	5	38		
SSPO	23145	broad.mit.edu	37	7	149522395	149522395	+	RNA	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:149522395C>T	ENST00000378016.2	+	0	14025							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.S63L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACACTGTATTCACCCTGGACT	0.637																																						uc010lpk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(14020-14022)TTC>TTT		SCO-spondin precursor							82.0	91.0	88.0					7																	149522395		2124	4250	6374			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149522395C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522395C>T						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	p.F4674F	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		101	14022	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4674			TIL 6.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.14022C>T																																																																																					0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					21	68	0	0	0	0.008871	0	21	68		
GIMAP5	55340	broad.mit.edu	37	7	150439547	150439547	+	Missense_Mutation	SNP	C	C	G	rs373837681		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150439547C>G	ENST00000358647.3	+	3	687	c.320C>G	c.(319-321)tCt>tGt	p.S107C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	107	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.S107C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTCTCTGCCCCGGGG	0.582																																						uc003whr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(319-321)TCT>TGT		GTPase, IMAP family member 5		C	CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	85.0	85.0		932,320	1.9	0.3	7		85	0,8600		0,0,4300	no	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	112,112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	311/512,107/308	150439547	1,13005	2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439547C>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.320C>G	7.37:g.150439547C>G	ENSP00000351473:p.Ser107Cys					GIMAP5_uc010lpu.2_5'UTR	p.S107C	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	672	+			107			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.320C>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367886	0.42003	2.27E-4	0.0	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.07021	3.23	3.82	1.87	0.25490	AIG1 (1);	0.348569	0.30911	N	0.008621	T	0.07503	0.0189	L	0.33668	1.02	0.27109	N	0.962421	P	0.40515	0.719	B	0.40702	0.338	T	0.15407	-1.0438	10	0.48119	T	0.1	.	9.7886	0.40692	0.0:0.5652:0.4348:0.0	.	107	Q96F15	GIMA5_HUMAN	C	107;143	ENSP00000351473:S107C	ENSP00000351473:S107C	S	+	2	0	GIMAP5	150070480	0.000000	0.05858	0.339000	0.25562	0.802000	0.45316	0.552000	0.23376	0.347000	0.23924	0.655000	0.94253	TCT		0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2		NM_018384		11	88	0	0	0	0.008291	0	11	88		
GIMAP5	55340	broad.mit.edu	37	7	150439620	150439620	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150439620C>G	ENST00000358647.3	+	3	760	c.393C>G	c.(391-393)atC>atG	p.I131M	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	131	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.I131M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTGGCCATCAGGAAGGTGA	0.592																																						uc003whr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(391-393)ATC>ATG		GTPase, IMAP family member 5							83.0	81.0	81.0					7																	150439620		2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439620C>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.393C>G	7.37:g.150439620C>G	ENSP00000351473:p.Ile131Met					GIMAP5_uc010lpu.2_Translation_Start_Site	p.I131M	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	745	+			131			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.393C>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	4.616	0.114510	0.08831	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.35789	1.29	4.15	-0.375	0.12509	AIG1 (1);	0.142760	0.47455	D	0.000232	T	0.18841	0.0452	N	0.13043	0.29	0.09310	N	1	B	0.19445	0.036	B	0.17722	0.019	T	0.17623	-1.0363	10	0.51188	T	0.08	.	8.9215	0.35615	0.0:0.5361:0.3162:0.1477	.	131	Q96F15	GIMA5_HUMAN	M	131;167	ENSP00000351473:I131M	ENSP00000351473:I131M	I	+	3	3	GIMAP5	150070553	0.000000	0.05858	0.630000	0.29268	0.267000	0.26476	-0.733000	0.04898	0.026000	0.15269	-0.211000	0.12701	ATC		0.592	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2		NM_018384		9	120	0	0	0	0.004482	0	9	120		
AGAP3	116988	broad.mit.edu	37	7	150840866	150840866	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150840866C>G	ENST00000463381.1	+	16	2075	c.1579C>G	c.(1579-1581)Cca>Gca	p.P527A	AGAP3_ENST00000397238.2_Missense_Mutation_p.P858A	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	822	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.P858A(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGGCCTGACTCCACTGGCATA	0.617																																						uc003wjg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(2572-2574)CCA>GCA		centaurin, gamma 3 isoform a							42.0	47.0	46.0					7																	150840866		1956	4138	6094	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150840866C>G	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1579C>G	7.37:g.150840866C>G	ENSP00000418016:p.Pro527Ala					AGAP3_uc003wje.1_Missense_Mutation_p.P527A|AGAP3_uc003wjj.1_Missense_Mutation_p.P357A|AGAP3_uc003wjk.1_Missense_Mutation_p.P276A	p.P858A	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN			18	2575	+			822			ANK 3.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2572C>G		.	.	.	.	.	.	.	.	.	.	C	3.898	-0.022693	0.07634	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.64085	-0.08;-0.08	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.186922	0.47093	D	0.000251	T	0.33440	0.0863	N	0.02973	-0.45	0.80722	D	1	B;B;B;B	0.31435	0.001;0.033;0.323;0.01	B;B;B;B	0.30943	0.013;0.08;0.122;0.01	T	0.43278	-0.9401	10	0.02654	T	1	.	13.9734	0.64255	0.0:0.8484:0.1516:0.0	.	822;357;858;527	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	A	527;357;858;822	ENSP00000418016:P527A;ENSP00000380413:P858A	ENSP00000334157:P822A	P	+	1	0	AGAP3	150471799	0.002000	0.14202	0.925000	0.36789	0.986000	0.74619	0.070000	0.14573	2.541000	0.85698	0.655000	0.94253	CCA		0.617	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2		NM_031946		6	86	0	0	0	0.001168	0	6	86		
TDRP	157695	broad.mit.edu	37	8	442608	442608	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:442608C>T	ENST00000324079.6	-	3	589	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TDRP_ENST00000524229.1_5'Flank|TDRP_ENST00000523656.1_Missense_Mutation_p.E117K|TDRP_ENST00000427263.2_Missense_Mutation_p.E117K			Q86YL5	TDRP_HUMAN	testis development related protein	117					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E117K(1)									GATATGTCTTCAAGAGCAAGT	0.493																																						uc003wpd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(349-351)GAA>AAA		hypothetical protein LOC157695							67.0	74.0	72.0					8																	442608		1867	4103	5970	SO:0001583	missense	157695							g.chr8:442608C>T	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.349G>A	8.37:g.442608C>T	ENSP00000315111:p.Glu117Lys					C8orf42_uc011kwg.1_Missense_Mutation_p.E117K	p.E117K	NM_175075	NP_778250	Q86YL5	CH042_HUMAN		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)	3	923	-		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	117					B6VF03|B9EG53	Missense_Mutation	SNP	ENST00000324079.6	37	c.349G>A	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542048	0.85917	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	6.08	6.08	0.98989	.	0.352171	0.31268	N	0.007955	T	0.65333	0.2681	L	0.58101	1.795	0.35978	D	0.835784	P;P	0.49559	0.925;0.873	P;B	0.49752	0.621;0.385	T	0.71227	-0.4655	9	0.51188	T	0.08	-21.0011	18.1586	0.89701	0.0:1.0:0.0:0.0	.	117;117	B6VF03;Q86YL5	.;CH042_HUMAN	K	117	.	ENSP00000315111:E117K	E	-	1	0	C8orf42	432608	0.934000	0.31675	0.036000	0.18154	0.724000	0.41520	4.921000	0.63397	2.890000	0.99128	0.655000	0.94253	GAA		0.493	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1		NM_175075		7	63	0	0	0	0.001984	0	7	63		
TDRP	157695	broad.mit.edu	37	8	442629	442629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:442629C>A	ENST00000324079.6	-	3	568	c.328G>T	c.(328-330)Gag>Tag	p.E110*	TDRP_ENST00000524229.1_Intron|TDRP_ENST00000523656.1_Nonsense_Mutation_p.E110*|TDRP_ENST00000427263.2_Nonsense_Mutation_p.E110*			Q86YL5	TDRP_HUMAN	testis development related protein	110					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E110*(1)									TTTGGAGGCTCCCAACCTTCA	0.468																																						uc003wpd.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(328-330)GAG>TAG		hypothetical protein LOC157695							77.0	84.0	82.0					8																	442629		1854	4097	5951	SO:0001587	stop_gained	157695							g.chr8:442629C>A	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.328G>T	8.37:g.442629C>A	ENSP00000315111:p.Glu110*					C8orf42_uc011kwg.1_Nonsense_Mutation_p.E110*	p.E110*	NM_175075	NP_778250	Q86YL5	CH042_HUMAN		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)	3	902	-		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	110					B6VF03|B9EG53	Nonsense_Mutation	SNP	ENST00000324079.6	37	c.328G>T	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	C	37	6.048168	0.97236	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.3691	18.1586	0.89701	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000315111:E110X	E	-	1	0	C8orf42	432629	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.921000	0.63397	2.890000	0.99128	0.655000	0.94253	GAG		0.468	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1		NM_175075		9	73	1	0	1.12685e-05	0.004482	1.18712e-05	9	73		
SGK223	157285	broad.mit.edu	37	8	8175847	8175847	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:8175847C>A	ENST00000520004.1	-	6	4302	c.4038G>T	c.(4036-4038)acG>acT	p.T1346T	SGK223_ENST00000330777.4_Silent_p.T1346T			Q86YV5	SG223_HUMAN		1350							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.T1346T(1)|p.T1348T(1)									AGTTGTGCAGCGTGCCGCACA	0.677																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(4036-4038)ACG>ACT		pragmin							81.0	92.0	88.0					8																	8175847		2121	4222	6343	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175847C>A																												ENST00000520004.1:c.4038G>T	8.37:g.8175847C>A							p.T1346T	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	4038	-			1346					Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.4038G>T	CCDS43706.1																																																																																				0.677	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				5	97	1	0	1.23904e-05	0.000602	1.30229e-05	5	97		
ESCO2	157570	broad.mit.edu	37	8	27645505	27645505	+	Missense_Mutation	SNP	G	G	C	rs191457728		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:27645505G>C	ENST00000305188.8	+	6	1355	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	ESCO2_ENST00000397418.2_Missense_Mutation_p.D21H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	373					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.D373H(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAAACAAAAGACCAGCTCAT	0.383									SC Phocomelia syndrome																													uc003xgg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1117-1119)GAC>CAC		establishment of cohesion 1 homolog 2							99.0	97.0	98.0					8																	27645505		2203	4300	6503	SO:0001583	missense	157570	SC_Phocomelia_syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27645505G>C	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1117G>C	8.37:g.27645505G>C	ENSP00000306999:p.Asp373His					ESCO2_uc010luy.1_RNA	p.D373H	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	6	1200	+		Ovarian(32;0.000953)	373					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.1117G>C	CCDS34872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.05|18.05	3.538052|3.538052	0.65085|0.65085	.|.	.|.	ENSG00000171320|ENSG00000171320	ENST00000305188;ENST00000397418|ENST00000518262	T;T|T	0.72725|0.49139	-0.2;-0.68|0.79	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.424311|.	0.28376|.	N|.	0.015580|.	T|T	0.48786|0.48786	0.1519|0.1519	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.22103|0.22103	-1.0226|-1.0226	10|7	0.72032|0.20519	D|T	0.01|0.43	-5.5893|-5.5893	17.5304|17.5304	0.87813|0.87813	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	373|.	Q56NI9|.	ESCO2_HUMAN|.	H|N	373;21|77	ENSP00000306999:D373H;ENSP00000380563:D21H|ENSP00000428959:K77N	ENSP00000306999:D373H|ENSP00000428959:K77N	D|K	+|+	1|3	0|2	ESCO2|ESCO2	27701424|27701424	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.724000|0.724000	0.41520|0.41520	3.745000|3.745000	0.55119|0.55119	2.736000|2.736000	0.93811|0.93811	0.561000|0.561000	0.74099|0.74099	GAC|AAG		0.383	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1		NM_001017420		13	107	0	0	0	0.013537	0	13	107		
PURG	29942	broad.mit.edu	37	8	30889612	30889612	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:30889612C>T	ENST00000475541.1	-	1	1619	c.687G>A	c.(685-687)atG>atA	p.M229I	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.M229I	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	229						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.M229I(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GAAACTCAATCATTCCTTGTG	0.488																																						uc003xin.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(685-687)ATG>ATA		purine-rich element binding protein G isoform A							135.0	113.0	120.0					8																	30889612		2203	4300	6503	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889612C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.687G>A	8.37:g.30889612C>T	ENSP00000418721:p.Met229Ile					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.M229I	p.M229I	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	706	-			229			By similarity.		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.687G>A	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916380	0.33815	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.29142	1.58;1.58	5.26	5.26	0.73747	.	0.058330	0.64402	D	0.000003	T	0.31638	0.0803	L	0.39245	1.2	0.45502	D	0.998468	P;P	0.37573	0.481;0.6	B;B	0.40009	0.3;0.316	T	0.03095	-1.1073	10	0.30854	T	0.27	-12.4236	18.4618	0.90741	0.0:1.0:0.0:0.0	.	229;229	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	I	229	ENSP00000345168:M229I;ENSP00000418721:M229I	ENSP00000345168:M229I	M	-	3	0	PURG	31009154	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.500000	0.45381	2.438000	0.82558	0.655000	0.94253	ATG		0.488	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1		NM_013357		15	135	0	0	0	0.003163	0	15	135		
OPRK1	4986	broad.mit.edu	37	8	54147422	54147422	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:54147422G>A	ENST00000265572.3	-	3	804	c.507C>T	c.(505-507)ttC>ttT	p.F169F	OPRK1_ENST00000520287.1_Silent_p.F169F|OPRK1_ENST00000524278.1_Silent_p.F80F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	169					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.F169F(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AGGGTGTGCGGAAGTCCAAAG	0.512																																						uc003xrh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(505-507)TTC>TTT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						119.0	99.0	106.0					8																	54147422		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147422G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.507C>T	8.37:g.54147422G>A						OPRK1_uc003xri.1_Silent_p.F169F|OPRK1_uc010lyc.1_Silent_p.F80F	p.F169F	NM_000912	NP_000903	P41145	OPRK_HUMAN			2	882	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	169			Cytoplasmic (Potential).		E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.507C>T	CCDS6152.1																																																																																				0.512	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1				5	89	0	0	0	0.000602	0	5	89		
HNF4G	3174	broad.mit.edu	37	8	76471126	76471126	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:76471126A>G	ENST00000354370.1	+	9	1106	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	HNF4G_ENST00000396423.2_Missense_Mutation_p.Y316C			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	279					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Y279C(1)|p.Y316C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GATCGGCAGTATGACTCCCGG	0.453																																						uc003yaq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(835-837)TAT>TGT		hepatocyte nuclear factor 4, gamma							105.0	95.0	98.0					8																	76471126		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76471126A>G		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.836A>G	8.37:g.76471126A>G	ENSP00000346339:p.Tyr279Cys					HNF4G_uc003yar.2_Missense_Mutation_p.Y316C	p.Y279C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		9	1106	+	Breast(64;0.0448)		279					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.836A>G		.	.	.	.	.	.	.	.	.	.	A	14.70	2.614686	0.46631	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.94537	-3.45;-3.45	5.62	5.62	0.85841	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.94932	0.8361	M	0.80508	2.5	0.80722	D	1	B;B	0.22746	0.074;0.052	B;B	0.33254	0.16;0.131	D	0.93054	0.6468	10	0.40728	T	0.16	.	15.8221	0.78662	1.0:0.0:0.0:0.0	.	316;279	F1D8Q4;Q14541	.;HNF4G_HUMAN	C	279;316	ENSP00000346339:Y279C;ENSP00000379701:Y316C	ENSP00000346339:Y279C	Y	+	2	0	HNF4G	76633681	1.000000	0.71417	0.992000	0.48379	0.213000	0.24496	9.281000	0.95811	2.139000	0.66308	0.533000	0.62120	TAT		0.453	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2		NM_004133		35	89	0	0	0	0.003271	0	35	89		
PKHD1L1	93035	broad.mit.edu	37	8	110535087	110535087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:110535087C>T	ENST00000378402.5	+	75	12402	c.12298C>T	c.(12298-12300)Cag>Tag	p.Q4100*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4100					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Q4104*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCATTTCCTCAGCAGCCTTC	0.458										HNSCC(38;0.096)																												uc003yne.2		NaN																	1	Substitution - Nonsense(1)	p.Q4100Q(1)	urinary_tract(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(12298-12300)CAG>TAG		fibrocystin L precursor							43.0	47.0	46.0					8																	110535087		2189	4291	6480	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110535087C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12298C>T	8.37:g.110535087C>T	ENSP00000367655:p.Gln4100*	HNSCC(38;0.096)					p.Q4100*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		75	12402	+			4100			Extracellular (Potential).		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.12298C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	40	8.499167	0.98838	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	5.96	5.96	0.96718	.	0.206150	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	17.913	0.88940	0.0:1.0:0.0:0.0	.	.	.	.	X	4100;1028	.	ENSP00000367655:Q4100X	Q	+	1	0	PKHD1L1	110604263	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.423000	0.52756	2.831000	0.97527	0.650000	0.86243	CAG		0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		6	13	0	0	0	0.001984	0	6	13		
CSMD3	114788	broad.mit.edu	37	8	114448989	114448989	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:114448989A>T	ENST00000297405.5	-	1	339	c.95T>A	c.(94-96)tTc>tAc	p.F32Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.F32Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.F32Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F32Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCAGGATGAAGTCTAGGCG	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(94-96)TTC>TAC		CUB and Sushi multiple domains 3 isoform 1							151.0	154.0	153.0					8																	114448989		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114448989A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.95T>A	8.37:g.114448989A>T	ENSP00000297405:p.Phe32Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc011lhx.1_Missense_Mutation_p.F32Y|CSMD3_uc010mcx.1_Missense_Mutation_p.F32Y|CSMD3_uc003ynx.3_Missense_Mutation_p.F32Y	p.F32Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			1	254	-			32			Cytoplasmic (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.95T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705918	0.30232	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26518	2.07;1.73;2.07	5.66	3.26	0.37387	.	0.822420	0.10183	N	0.705661	T	0.14960	0.0361	N	0.08118	0	0.24154	N	0.995682	B;B;B;B	0.34103	0.255;0.232;0.437;0.165	B;B;B;B	0.37239	0.145;0.085;0.244;0.069	T	0.26677	-1.0096	10	0.48119	T	0.1	.	7.4038	0.26979	0.7486:0.0:0.2514:0.0	.	32;32;32;32	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	Y	32	ENSP00000297405:F32Y;ENSP00000412263:F32Y;ENSP00000343124:F32Y	ENSP00000297405:F32Y	F	-	2	0	CSMD3	114518165	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.723000	0.54955	0.410000	0.25675	0.533000	0.62120	TTC		0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		5	178	0	0	0	0.001168	0	5	178		
TBC1D31	93594	broad.mit.edu	37	8	124095030	124095030	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:124095030G>C	ENST00000287380.1	+	3	403	c.313G>C	c.(313-315)Gat>Cat	p.D105H	TBC1D31_ENST00000522420.1_Intron|TBC1D31_ENST00000521676.1_Intron|TBC1D31_ENST00000327098.5_Missense_Mutation_p.D105H|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D105H|TBC1D31_ENST00000378080.2_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	105						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.D105H(1)									GGCATTAGCTGATTATTCTAT	0.348																																						uc003ypp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(313-315)GAT>CAT		WD repeat domain 67 isoform 1							109.0	102.0	104.0					8																	124095030		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124095030G>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.313G>C	8.37:g.124095030G>C	ENSP00000287380:p.Asp105His					WDR67_uc011lig.1_Missense_Mutation_p.D105H|WDR67_uc011lih.1_Intron|WDR67_uc003ypq.1_Intron|WDR67_uc003ypo.1_Missense_Mutation_p.D105H	p.D105H	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	403	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		105					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.313G>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814915	0.90790	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522276	T;T;T;T	0.79653	-1.15;0.91;0.91;-1.29	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.82923	2.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.99;0.988	D	0.91636	0.5323	10	0.87932	D	0	-30.251	19.5989	0.95551	0.0:0.0:1.0:0.0	.	105;105;105	B7ZL19;Q96DN5;Q3KRB0	.;WDR67_HUMAN;.	H	105;105;105;95	ENSP00000287380:D105H;ENSP00000308358:D105H;ENSP00000312701:D105H;ENSP00000428891:D95H	ENSP00000287380:D105H	D	+	1	0	WDR67	124164211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.096000	0.94182	2.632000	0.89209	0.591000	0.81541	GAT		0.348	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1		NM_145647		4	99	0	0	0	0.009096	0	4	99		
C8orf76	84933	broad.mit.edu	37	8	124250182	124250182	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:124250182C>G	ENST00000276704.4	-	3	265		c.e3-1		C8orf76_ENST00000521310.1_Splice_Site|ZHX1-C8ORF76_ENST00000357082.4_Splice_Site	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76									p.?(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGTGCTTTCTGGAAATTAT	0.378																																						uc003yqc.1		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)	2						c.e3-1		hypothetical protein LOC84933							40.0	41.0	41.0					8																	124250182		2203	4300	6503	SO:0001630	splice_region_variant	84933						binding	g.chr8:124250182C>G	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.214-1G>C	8.37:g.124250182C>G						C8orf76_uc003yqd.2_Splice_Site_p.K40_splice	p.K72_splice	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	245	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)							Q53HC1	Splice_Site	SNP	ENST00000276704.4	37	c.214_splice	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520593	0.64747	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C8orf76	124319363	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.404000	0.66344	2.776000	0.95493	0.655000	0.94253	.		0.378	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1		NM_032847	Intron	7	96	0	0	0	0.004482	0	7	96		
LRRC6	23639	broad.mit.edu	37	8	133623581	133623581	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:133623581C>T	ENST00000519595.1	-	9	1101	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	LRRC6_ENST00000250173.1_Missense_Mutation_p.D335N|LRRC6_ENST00000518642.1_Missense_Mutation_p.D335N			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	335	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D335N(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTTGCACATCAACATCGATT	0.308																																						uc003ytk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(1003-1005)GAT>AAT		leucine rich repeat containing 6							75.0	74.0	74.0					8																	133623581		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133623581C>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1003G>A	8.37:g.133623581C>T	ENSP00000429791:p.Asp335Asn					LRRC6_uc003ytl.2_RNA	p.D335N	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		9	1077	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		335			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.1003G>A		.	.	.	.	.	.	.	.	.	.	C	16.51	3.144039	0.57044	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T;T	0.76578	-1.03;-1.03;0.98;-1.03	5.89	5.02	0.67125	CS-like domain (1);	0.049025	0.85682	N	0.000000	D	0.84606	0.5509	M	0.84585	2.705	0.58432	D	0.999997	D	0.58970	0.984	P	0.51415	0.669	D	0.87316	0.2315	10	0.87932	D	0	-26.6343	13.6358	0.62221	0.0:0.9255:0.0:0.0744	.	335	Q86X45	LRRC6_HUMAN	N	335;75;335;335;335	ENSP00000429791:D335N;ENSP00000428015:D75N;ENSP00000428610:D335N;ENSP00000250173:D335N	ENSP00000250173:D335N	D	-	1	0	LRRC6	133692763	1.000000	0.71417	0.934000	0.37439	0.139000	0.21198	3.114000	0.50383	1.505000	0.48720	0.561000	0.74099	GAT		0.308	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1		NM_012472		4	60	0	0	0	0.000602	0	4	60		
KHDRBS3	10656	broad.mit.edu	37	8	136594141	136594141	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:136594141C>T	ENST00000355849.5	+	6	1042	c.632C>T	c.(631-633)gCc>gTc	p.A211V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	211					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A211V(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GGAGTTACAGCCCGGCCAGTT	0.502																																						uc003yuv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(631-633)GCC>GTC		KH domain containing, RNA binding, signal							88.0	89.0	88.0					8																	136594141		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594141C>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.632C>T	8.37:g.136594141C>T	ENSP00000348108:p.Ala211Val					KHDRBS3_uc003yuw.2_Missense_Mutation_p.A211V|KHDRBS3_uc010mek.2_RNA	p.A211V	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1026	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		211					Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.632C>T	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.092759|2.092759	0.36952|0.36952	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000355849;ENST00000524199|ENST00000524282	T|.	0.43688|.	0.94|.	6.07|6.07	5.18|5.18	0.71444|0.71444	.|.	0.662146|.	0.16764|.	N|.	0.200483|.	T|T	0.35422|0.35422	0.0931|0.0931	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B;P|.	0.35684|.	0.02;0.515|.	B;B|.	0.38954|.	0.015;0.286|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|5	0.21014|.	T|.	0.42|.	-8.8779|-8.8779	16.4731|16.4731	0.84124|0.84124	0.0:0.8689:0.1311:0.0|0.0:0.8689:0.1311:0.0	.|.	211;211|.	O75525-2;O75525|.	.;KHDR3_HUMAN|.	V|S	211;183|126	ENSP00000348108:A211V|.	ENSP00000348108:A211V|.	A|P	+|+	2|1	0|0	KHDRBS3|KHDRBS3	136663323|136663323	0.501000|0.501000	0.26099|0.26099	0.996000|0.996000	0.52242|0.52242	0.787000|0.787000	0.44495|0.44495	3.764000|3.764000	0.55264|0.55264	1.559000|1.559000	0.49555|0.49555	0.650000|0.650000	0.86243|0.86243	GCC|CCC		0.502	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1				18	95	0	0	0	0.010504	0	18	95		
C8orf82	414919	broad.mit.edu	37	8	145753430	145753430	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:145753430C>G	ENST00000524821.1	-	2	398	c.183G>C	c.(181-183)aaG>aaC	p.K61N	C8orf82_ENST00000313465.5_Missense_Mutation_p.K61N|LRRC24_ENST00000529415.2_5'Flank|LRRC24_ENST00000533758.1_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	61								p.K61N(1)		endometrium(1)|urinary_tract(1)	2						TGATGAAATTCTTCATTTTGG	0.582																																						uc003zdp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(181-183)AAG>AAC		hypothetical protein LOC414919							87.0	85.0	85.0					8																	145753430		2203	4300	6503	SO:0001583	missense	414919							g.chr8:145753430C>G		CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.183G>C	8.37:g.145753430C>G	ENSP00000436621:p.Lys61Asn					LRRC24_uc003zdm.2_5'Flank|LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdq.1_5'UTR|MGC70857_uc003zdr.1_RNA	p.K61N	NM_001001795	NP_001001795	Q6P1X6	CH082_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	341	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		61					Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	ENST00000524821.1	37	c.183G>C	CCDS34970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.018961|4.018961	0.75275|0.75275	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000532827|ENST00000524821;ENST00000313465	.|.	.|.	.|.	4.6|4.6	3.73|3.73	0.42828|0.42828	.|.	.|0.000000	.|0.56097	.|U	.|0.000030	T|T	0.77705|0.77705	0.4170|0.4170	M|M	0.84219|0.84219	2.685|2.685	0.43647|0.43647	D|D	0.99605|0.99605	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.78656|0.78656	-0.2119|-0.2119	5|9	.|0.87932	.|D	.|0	-20.0619|-20.0619	8.9311|8.9311	0.35670|0.35670	0.0:0.8947:0.0:0.1053|0.0:0.8947:0.0:0.1053	.|.	.|61	.|Q6P1X6	.|CH082_HUMAN	Q|N	106|61	.|.	.|ENSP00000316262:K61N	E|K	-|-	1|3	0|2	C8orf82|C8orf82	145724238|145724238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.852000|1.852000	0.39348|0.39348	0.941000|0.941000	0.37499|0.37499	-0.222000|-0.222000	0.12452|0.12452	GAA|AAG		0.582	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1		NM_001001795		12	61	0	0	0	0.00245	0	12	61		
IL33	90865	broad.mit.edu	37	9	6252898	6252898	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:6252898C>A	ENST00000381434.3	+	4	389	c.376C>A	c.(376-378)Cta>Ata	p.L126I	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	126					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.L126I(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCTTGCTTCTCTAAGCACATA	0.318																																						uc003zjt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(376-378)CTA>ATA		interleukin 33 precursor							79.0	79.0	79.0					9																	6252898		2203	4299	6502	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6252898C>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.376C>A	9.37:g.6252898C>A	ENSP00000370842:p.Leu126Ile					IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.L126I	p.L126I	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	5	433	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	126					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.376C>A	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200106	0.58126	.	.	ENSG00000137033	ENST00000381434	T	0.59906	0.23	4.83	2.97	0.34412	.	0.432853	0.17075	N	0.188024	T	0.65207	0.2669	L	0.47190	1.495	0.40820	D	0.983492	D	0.76494	0.999	D	0.97110	1.0	T	0.66300	-0.5958	10	0.87932	D	0	-1.2312	6.554	0.22450	0.0:0.7905:0.0:0.2095	.	126	O95760	IL33_HUMAN	I	126	ENSP00000370842:L126I	ENSP00000370842:L126I	L	+	1	2	IL33	6242898	0.563000	0.26594	0.731000	0.30826	0.827000	0.46813	0.666000	0.25097	1.394000	0.46624	0.650000	0.86243	CTA		0.318	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1		NM_033439		38	86	1	0	1.36161e-19	0.004289	1.48272e-19	38	86		
MPDZ	8777	broad.mit.edu	37	9	13113048	13113048	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:13113048A>G	ENST00000319217.7	-	42	5810	c.5563T>C	c.(5563-5565)Tct>Cct	p.S1855P	MPDZ_ENST00000538841.1_Missense_Mutation_p.S714P|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1855P|MPDZ_ENST00000541093.1_Missense_Mutation_p.S89P|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1826P|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1826P|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1793P|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1822P|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1869P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1855					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.S1826P(1)|p.S1827P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTATTTCAGATGCCACTGTA	0.323																																						uc010mhy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(5)|central_nervous_system(1)	6						c.(5476-5478)TCT>CCT		multiple PDZ domain protein							87.0	74.0	78.0					9																	13113048		1805	4062	5867	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13113048A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5563T>C	9.37:g.13113048A>G	ENSP00000320006:p.Ser1855Pro					MPDZ_uc003zkx.3_Missense_Mutation_p.S91P|MPDZ_uc003zky.3_Missense_Mutation_p.S389P|MPDZ_uc010mib.2_Missense_Mutation_p.S560P|MPDZ_uc010mhx.2_Missense_Mutation_p.S677P|MPDZ_uc011lmm.1_Missense_Mutation_p.S714P|MPDZ_uc003zkz.3_Missense_Mutation_p.S548P|MPDZ_uc010mhz.2_Missense_Mutation_p.S1822P|MPDZ_uc011lmn.1_Missense_Mutation_p.S1793P|MPDZ_uc003zlb.3_Missense_Mutation_p.S1826P	p.S1826P	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	40	5527	-			1855					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5476T>C		.	.	.	.	.	.	.	.	.	.	A	14.77	2.634213	0.47049	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.71	5.71	0.89125	PDZ/DHR/GLGF (1);	0.185573	0.27473	N	0.019219	T	0.36826	0.0981	L	0.39898	1.24	0.48087	D	0.999585	B;B;B;B;B;B;B;B	0.22983	0.016;0.001;0.001;0.012;0.078;0.027;0.005;0.0	B;B;B;B;B;B;B;B	0.21151	0.015;0.003;0.002;0.014;0.018;0.033;0.005;0.002	T	0.09618	-1.0666	10	0.33141	T	0.24	.	15.9423	0.79768	1.0:0.0:0.0:0.0	.	1793;714;560;1822;1735;1826;1855;548	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	P	1855;1826;1826;396;89;791;714;1793;1822;1855;1735;1869	ENSP00000320006:S1855P;ENSP00000439807:S1826P;ENSP00000370410:S1826P;ENSP00000415964:S396P;ENSP00000445259:S89P;ENSP00000444230:S791P;ENSP00000444717:S714P;ENSP00000444151:S1793P;ENSP00000415208:S1822P;ENSP00000370403:S1855P;ENSP00000446358:S1869P	ENSP00000320006:S1855P	S	-	1	0	MPDZ	13103048	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.114000	0.71560	2.302000	0.77476	0.477000	0.44152	TCT		0.323	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		2	11	0	0	0	0.004672	0	2	11		
OGN	4969	broad.mit.edu	37	9	95155527	95155527	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:95155527C>T	ENST00000262551.4	-	4	689		c.e4-1		OGN_ENST00000468743.1_5'Flank|CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Splice_Site	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GTGGGCATTTCTAAATTGGGA	0.333																																						uc004asa.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e4-1		osteoglycin preproprotein							85.0	77.0	80.0					9																	95155527		2203	4300	6503	SO:0001630	splice_region_variant	4969					extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95155527C>T	AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.269-1G>A	9.37:g.95155527C>T						CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Splice_Site_p.E90_splice|OGN_uc011ltx.1_Splice_Site_p.E108_splice	p.E90_splice	NM_014057	NP_054776	P20774	MIME_HUMAN			4	504	-								Q6FIB0|Q9UF90|Q9UNK5	Splice_Site	SNP	ENST00000262551.4	37	c.269_splice	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784194	0.49997	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6606	0.88192	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OGN	94195348	1.000000	0.71417	0.997000	0.53966	0.572000	0.35998	5.861000	0.69553	2.256000	0.74724	0.484000	0.47621	.		0.333	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1		NM_024416	Intron	6	43	0	0	0	0.001984	0	6	43		
PHF2	5253	broad.mit.edu	37	9	96415473	96415473	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:96415473C>T	ENST00000359246.4	+	6	982	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	205	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F205F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTCCAGCTTCGTGGAGCCAC	0.502																																						uc004aub.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(613-615)TTC>TTT		PHD finger protein 2							82.0	69.0	73.0					9																	96415473		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96415473C>T	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.615C>T	9.37:g.96415473C>T						PHF2_uc011lug.1_Silent_p.F88F	p.F205F	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	6	762	+		Myeloproliferative disorder(762;0.0255)	205			JmjC.		Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.615C>T	CCDS35069.1																																																																																				0.502	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1		NM_005392		6	29	0	0	0	0.001168	0	6	29		
ZNF510	22869	broad.mit.edu	37	9	99522220	99522220	+	Missense_Mutation	SNP	C	C	G	rs566370710		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:99522220C>G	ENST00000375231.1	-	6	1542	c.892G>C	c.(892-894)Gac>Cac	p.D298H	ZNF510_ENST00000223428.4_Missense_Mutation_p.D298H			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D298H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCTGTGGTCAAAGAGAGTT	0.358																																						uc004awn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(892-894)GAC>CAC		zinc finger protein 510							93.0	98.0	96.0					9																	99522220		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99522220C>G	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.892G>C	9.37:g.99522220C>G	ENSP00000364379:p.Asp298His					ZNF510_uc004awo.1_Missense_Mutation_p.D298H	p.D298H	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			6	1081	-		Acute lymphoblastic leukemia(62;0.0527)	298					Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.892G>C	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	12.14	1.847219	0.32606	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.06068	3.35;3.35	3.42	0.357	0.16079	.	.	.	.	.	T	0.04634	0.0126	L	0.33668	1.02	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.41448	-0.9508	9	0.45353	T	0.12	.	2.5432	0.04730	0.1794:0.3608:0.3514:0.1084	.	298	Q9Y2H8	ZN510_HUMAN	H	298	ENSP00000364379:D298H;ENSP00000223428:D298H	ENSP00000223428:D298H	D	-	1	0	ZNF510	98562041	0.000000	0.05858	0.003000	0.11579	0.213000	0.24496	-0.644000	0.05415	0.071000	0.16664	0.655000	0.94253	GAC		0.358	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1		NM_014930		8	112	0	0	0	0.00308	0	8	112		
UGCG	7357	broad.mit.edu	37	9	114691868	114691868	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:114691868G>A	ENST00000374279.3	+	6	1097	c.647G>A	c.(646-648)aGa>aAa	p.R216K	MIR4668_ENST00000582284.1_RNA|UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	216					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.R216K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGTTTAATGAGAAAAGATGTG	0.393																																						uc004bft.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(646-648)AGA>AAA		ceramide glucosyltransferase	Miglustat(DB00419)						176.0	164.0	168.0					9																	114691868		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114691868G>A	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.647G>A	9.37:g.114691868G>A	ENSP00000363397:p.Arg216Lys						p.R216K	NM_003358	NP_003349	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	6	937	+			216			Lumenal (Potential).		Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.647G>A	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844270	0.91197	.	.	ENSG00000148154	ENST00000374279	T	0.66460	-0.21	6.04	6.04	0.98038	.	0.067807	0.85682	D	0.000000	T	0.69070	0.3070	L	0.42245	1.32	0.80722	D	1	P	0.41366	0.747	P	0.45610	0.487	T	0.67530	-0.5647	10	0.49607	T	0.09	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	216	Q16739	CEGT_HUMAN	K	216	ENSP00000363397:R216K	ENSP00000363397:R216K	R	+	2	0	UGCG	113731689	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.750000	0.98875	2.873000	0.98535	0.563000	0.77884	AGA		0.393	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1		NM_003358		65	79	0	0	0	0.01441	0	65	79		
GPR21	2844	broad.mit.edu	37	9	125797112	125797112	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:125797112C>T	ENST00000373642.1	+	1	307	c.267C>T	c.(265-267)ctC>ctT	p.L89L	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	89					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L89L(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CTTTATCACTCCTCCATCACC	0.463																																						uc011lzk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(265-267)CTC>CTT		G protein-coupled receptor 21							131.0	110.0	117.0					9																	125797112		2203	4300	6503	SO:0001819	synonymous_variant	2844					integral to plasma membrane	G-protein coupled receptor activity	g.chr9:125797112C>T	BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.267C>T	9.37:g.125797112C>T						RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	p.L89L	NM_005294	NP_005285	Q99679	GPR21_HUMAN			1	267	+			89			Helical; Name=2; (Potential).		B2R8W9|Q6NXU2	Silent	SNP	ENST00000373642.1	37	c.267C>T	CCDS6849.1																																																																																				0.463	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1		NM_005294		36	44	0	0	0	0.003271	0	36	44		
TSC1	7248	broad.mit.edu	37	9	135786887	135786887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:135786887G>A	ENST00000298552.3	-	10	1203	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q277*|TSC1_ENST00000403810.1_Nonsense_Mutation_p.Q328*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q328*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	328					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.Q328*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCAGAGTCTGAGGTAGCTGC	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)	urinary_tract(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(982-984)CAG>TAG		tuberous sclerosis 1 protein isoform 1							193.0	166.0	175.0					9																	135786887		2203	4300	6503	SO:0001587	stop_gained	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135786887G>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.982C>T	9.37:g.135786887G>A	ENSP00000298552:p.Gln328*					TSC1_uc004ccb.3_Nonsense_Mutation_p.Q328*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q277*|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Nonsense_Mutation_p.Q207*|TSC1_uc004ccc.1_Nonsense_Mutation_p.Q328*|TSC1_uc004ccd.2_Nonsense_Mutation_p.Q328*|TSC1_uc004cce.1_Nonsense_Mutation_p.Q328*	p.Q328*	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	10	1216	-			328					B7Z897|Q5VVN5	Nonsense_Mutation	SNP	ENST00000298552.3	37	c.982C>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	38	7.170668	0.98111	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000424271;ENST00000403810	.	.	.	5.79	5.79	0.91817	.	0.274129	0.42964	D	0.000627	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.3655	17.1959	0.86892	0.0:0.0:1.0:0.0	.	.	.	.	X	328;328;277;207;328	.	ENSP00000298552:Q328X	Q	-	1	0	TSC1	134776708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.069000	0.71209	2.733000	0.93635	0.655000	0.94253	CAG		0.502	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				36	72	0	0	0	0.004289	0	36	72		
COL5A1	1289	broad.mit.edu	37	9	137676852	137676852	+	Silent	SNP	C	C	T	rs144775947		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:137676852C>T	ENST00000371817.3	+	30	2916	c.2502C>T	c.(2500-2502)ccC>ccT	p.P834P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	834	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P834P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGCCCACCCGGTCCCAGGG	0.617																																						uc004cfe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(2500-2502)CCC>CCT		alpha 1 type V collagen preproprotein				0,4406		0,0,2203	33.0	40.0	38.0		2502	0.6	1.0	9	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		834/1839	137676852	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137676852C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2502C>T	9.37:g.137676852C>T							p.P834P	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	30	2884	+		Myeloproliferative disorder(178;0.0341)	834			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.2502C>T	CCDS6982.1																																																																																				0.617	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		3	45	0	0	0	0.000602	0	3	45		
OBP2A	29991	broad.mit.edu	37	9	138439763	138439763	+	Silent	SNP	C	C	T	rs533103497		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:138439763C>T	ENST00000539850.1	+	4	350	c.324C>T	c.(322-324)gaC>gaT	p.D108D	OBP2A_ENST00000340780.3_Silent_p.D108D|OBP2A_ENST00000342114.4_Nonsense_Mutation_p.R64*|OBP2A_ENST00000371776.1_Silent_p.D108D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	108					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.D108D(3)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCGGGACGGACGACTACGTCT	0.612																																						uc004cgb.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(1)|large_intestine(1)|endometrium(1)		0						c.(322-324)GAC>GAT		odorant binding protein 2A precursor							60.0	54.0	56.0					9																	138439763		2203	4300	6503	SO:0001819	synonymous_variant	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138439763C>T	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.324C>T	9.37:g.138439763C>T						OBP2A_uc004cgc.2_Silent_p.D108D|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Nonsense_Mutation_p.R64*	p.D108D	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	4	366	+			108					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Silent	SNP	ENST00000539850.1	37	c.324C>T	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953679	0.34471	.	.	ENSG00000122136	ENST00000342114	.	.	.	2.25	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-41.1138	0.8831	0.01238	0.2262:0.3671:0.2464:0.1602	.	.	.	.	X	64	.	ENSP00000340950:R64X	R	+	1	2	OBP2A	137579584	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.586000	0.05787	-0.254000	0.09500	-0.513000	0.04457	CGA		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1		NM_014582		3	21	0	0	0	0.004672	0	3	21		
PMPCA	23203	broad.mit.edu	37	9	139313052	139313052	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:139313052G>A	ENST00000371717.3	+	9	1045	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	PMPCA_ENST00000399219.3_Missense_Mutation_p.G215R|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	346					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G346R(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GATGATGGGCGGAGGTGGCTC	0.602																																						uc004chl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1036-1038)GGA>AGA		peptidase (mitochondrial processing) alpha							85.0	75.0	78.0					9																	139313052		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139313052G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1036G>A	9.37:g.139313052G>A	ENSP00000360782:p.Gly346Arg					PMPCA_uc010nbl.2_Missense_Mutation_p.G246R|PMPCA_uc011mdz.1_Missense_Mutation_p.G215R|PMPCA_uc004chm.1_Missense_Mutation_p.G96R|PMPCA_uc004chn.1_5'Flank	p.G346R	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	9	1041	+		Myeloproliferative disorder(178;0.0821)	346					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1036G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	g	29.1	4.979745	0.92982	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.10668	2.85;2.85;2.85	5.23	5.23	0.72850	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.66468	-0.5916	10	0.87932	D	0	.	17.7957	0.88570	0.0:0.0:1.0:0.0	.	215;346;54;346	B4DKL3;Q5SXM9;Q5SXN9;Q10713	.;.;.;MPPA_HUMAN	R	346;215;54	ENSP00000360782:G346R;ENSP00000416702:G215R;ENSP00000408393:G54R	ENSP00000360782:G346R	G	+	1	0	PMPCA	138432873	1.000000	0.71417	0.508000	0.27688	0.902000	0.53008	9.536000	0.98067	2.447000	0.82792	0.556000	0.70494	GGA		0.602	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1		NM_015160		3	45	0	0	0	0.000602	0	3	45		
SYTL5	94122	broad.mit.edu	37	X	37955435	37955435	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:37955435C>T	ENST00000357972.5	+	9	1556	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.S337L|SYTL5_ENST00000456733.2_Missense_Mutation_p.S337L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	337					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.S337L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACAGAAGACTCAGAGGATACT	0.418																																						uc004ddu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1009-1011)TCA>TTA		synaptotagmin-like 5 isoform 1							103.0	91.0	95.0					X																	37955435		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37955435C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1010C>T	X.37:g.37955435C>T	ENSP00000350657:p.Ser337Leu					SYTL5_uc004ddv.2_Missense_Mutation_p.S337L|SYTL5_uc004ddx.2_Missense_Mutation_p.S337L	p.S337L	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			10	1544	+			337					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1010C>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	5.459	0.269702	0.10349	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.21932	1.98;1.98;2.24	5.52	1.7	0.24286	.	1.059770	0.07314	N	0.876319	T	0.05914	0.0154	N	0.00677	-1.265	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34700	-0.9818	10	0.27082	T	0.32	-10.9375	3.8604	0.08993	0.1905:0.2573:0.0:0.5522	.	337;337	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	L	337	ENSP00000297875:S337L;ENSP00000350657:S337L;ENSP00000395220:S337L	ENSP00000297875:S337L	S	+	2	0	SYTL5	37840379	0.675000	0.27558	0.723000	0.30687	0.206000	0.24218	0.781000	0.26774	0.227000	0.20999	-0.497000	0.04613	TCA		0.418	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1		NM_138780		11	57	0	0	0	0.010729	0	11	57		
TFE3	7030	broad.mit.edu	37	X	48895743	48895743	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:48895743G>A	ENST00000315869.7	-	4	1018	c.759C>T	c.(757-759)atC>atT	p.I253I	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	253					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I253I(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCTGGACCCGATGGTGAGCA	0.602			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								G|||	1	0.000264901	0.0	0.0014	3775	,	,		12506	0.0		0.0	False		,,,				2504	0.0					uc004dmb.3		NaN		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	2	Substitution - coding silent(2)		urinary_tract(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(757-759)ATC>ATT		transcription factor E3							26.0	27.0	27.0					X																	48895743		2202	4296	6498	SO:0001819	synonymous_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48895743G>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.759C>T	X.37:g.48895743G>A						TFE3_uc004dmc.3_Silent_p.I148I|TFE3_uc004dme.1_RNA	p.I253I	NM_006521	NP_006512	P19532	TFE3_HUMAN			4	997	-			253					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	37	c.759C>T	CCDS14315.3																																																																																				0.602	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2		NM_006521		3	24	0	0	0	0.004672	0	3	24		
CACNA1F	778	broad.mit.edu	37	X	49070628	49070628	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:49070628G>C	ENST00000376265.2	-	30	3793	c.3732C>G	c.(3730-3732)ttC>ttG	p.F1244L	CACNA1F_ENST00000376251.1_Missense_Mutation_p.F1179L|CACNA1F_ENST00000323022.5_Missense_Mutation_p.F1233L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1244					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F1244L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTGGGCTTGAAGGCGATGA	0.547																																						uc004dnb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(3730-3732)TTC>TTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						121.0	90.0	100.0					X																	49070628		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49070628G>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3732C>G	X.37:g.49070628G>C	ENSP00000365441:p.Phe1244Leu					CACNA1F_uc010nip.2_Missense_Mutation_p.F1233L	p.F1244L	NM_005183	NP_005174	O60840	CAC1F_HUMAN			30	3794	-			1244			IV.|Helical; Name=S2 of repeat IV; (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3732C>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432777	0.62844	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97209	-4.29;-4.29;-4.29	5.08	4.2	0.49525	Ion transport (1);	0.059689	0.64402	D	0.000001	D	0.95468	0.8528	N	0.17082	0.46	0.36150	D	0.847409	B;P	0.44578	0.009;0.838	B;P	0.60117	0.006;0.869	D	0.95372	0.8465	10	0.52906	T	0.07	.	7.874	0.29582	0.2011:0.0:0.7989:0.0	.	1233;1244	F5CIQ9;O60840	.;CAC1F_HUMAN	L	1179;1233;1244	ENSP00000365427:F1179L;ENSP00000321618:F1233L;ENSP00000365441:F1244L	ENSP00000321618:F1233L	F	-	3	2	CACNA1F	48957572	0.999000	0.42202	1.000000	0.80357	0.944000	0.59088	0.512000	0.22755	0.901000	0.36495	0.529000	0.55759	TTC		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183		6	55	0	0	0	0.001168	0	6	55		
DOCK11	139818	broad.mit.edu	37	X	117788597	117788597	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:117788597G>C	ENST00000276202.7	+	43	4791	c.4728G>C	c.(4726-4728)ttG>ttC	p.L1576F	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1576F	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1576					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1576F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAAAGACTTGACCAAGAGAA	0.423																																						uc004eqp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(4726-4728)TTG>TTC		dedicator of cytokinesis 11							72.0	69.0	70.0					X																	117788597		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117788597G>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4728G>C	X.37:g.117788597G>C	ENSP00000276202:p.Leu1576Phe					DOCK11_uc004eqq.2_Missense_Mutation_p.L1355F	p.L1576F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			43	4791	+			1576			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4728G>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556170	0.86231	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.01998	4.51;4.51	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09292	-1.0681	10	0.87932	D	0	-12.5073	17.5152	0.87771	0.0:0.0:1.0:0.0	.	1576;1576	A6NIW2;Q5JSL3	.;DOC11_HUMAN	F	1576	ENSP00000276204:L1576F;ENSP00000276202:L1576F	ENSP00000276202:L1576F	L	+	3	2	DOCK11	117672625	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.306000	0.65756	2.062000	0.61559	0.600000	0.82982	TTG		0.423	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1		NM_144658		25	50	0	0	0	0.004656	0	25	50		
ELF4	2000	broad.mit.edu	37	X	129206253	129206253	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:129206253C>T	ENST00000308167.5	-	5	859	c.480G>A	c.(478-480)gaG>gaA	p.E160E	ELF4_ENST00000335997.7_Silent_p.E160E	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.E160E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGAGGCCTTCTCCTCCAGAG	0.567			T	ERG	AML																																	uc004evd.3		NaN		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(478-480)GAG>GAA		E74-like factor 4							160.0	158.0	159.0					X																	129206253		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129206253C>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.480G>A	X.37:g.129206253C>T						ELF4_uc004eve.3_Silent_p.E160E	p.E160E	NM_001421	NP_001412	Q99607	ELF4_HUMAN			5	865	-			160			RUNX1-binding.			Silent	SNP	ENST00000308167.5	37	c.480G>A	CCDS14617.1																																																																																				0.567	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1		NM_001421		10	88	0	0	0	0.013537	0	10	88		
ARHGAP36	158763	broad.mit.edu	37	X	130220601	130220601	+	Missense_Mutation	SNP	G	G	T	rs185166986		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:130220601G>T	ENST00000276211.5	+	11	1793	c.1448G>T	c.(1447-1449)cGg>cTg	p.R483L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R347L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R471L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R483L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGAAGCCCGGGCTGCTGTC	0.512																																						uc004evz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1447-1449)CGG>CTG		hypothetical protein LOC158763 precursor							95.0	84.0	88.0					X																	130220601		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220601G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1448G>T	X.37:g.130220601G>T	ENSP00000276211:p.Arg483Leu					ARHGAP36_uc004ewa.2_Missense_Mutation_p.R471L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R452L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R347L	p.R483L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			11	1793	+			483					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1448G>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	2.095	-0.407460	0.04832	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.11712	2.75;2.76;2.77;2.77	4.32	-3.79	0.04320	.	0.865783	0.09828	N	0.750599	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.01;0.034;0.006	B;B;B	0.22753	0.041;0.041;0.018	T	0.45483	-0.9258	10	0.14656	T	0.56	.	13.5681	0.61830	0.7917:0.0:0.2083:0.0	.	452;471;483	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	L	483;471;452;347	ENSP00000276211:R483L;ENSP00000359960:R471L;ENSP00000408515:R452L;ENSP00000359959:R347L	ENSP00000276211:R483L	R	+	2	0	ARHGAP36	130048282	0.018000	0.18449	0.000000	0.03702	0.078000	0.17371	-0.318000	0.08050	-1.203000	0.02652	-1.013000	0.02462	CGG		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1		NM_144967		40	26	1	0	1.76056e-25	0.011902	1.92641e-25	40	26		
ZNF75D	7626	broad.mit.edu	37	X	134421722	134421722	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:134421722C>T	ENST00000370766.3	-	7	3589	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E199K|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	294	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E294K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTTTGTATTTCTGATGTAGAA	0.373																																						uc004eyp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(880-882)GAA>AAA		zinc finger protein 75							95.0	82.0	86.0					X																	134421722		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421722C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.880G>A	X.37:g.134421722C>T	ENSP00000359802:p.Glu294Lys					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.E73K|ZNF75D_uc004eyo.2_Missense_Mutation_p.E199K	p.E294K	NM_007131	NP_009062	P51815	ZN75D_HUMAN			7	3535	-			294			KRAB.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.880G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401347	0.62288	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.07021	3.23;3.25	2.74	2.74	0.32292	Krueppel-associated box (2);	0.000000	0.37669	N	0.001996	T	0.11750	0.0286	M	0.64997	1.995	0.28150	N	0.929443	P;P	0.46987	0.888;0.799	B;P	0.47346	0.319;0.544	T	0.07693	-1.0759	10	0.14656	T	0.56	.	10.7157	0.46011	0.0:1.0:0.0:0.0	.	294;199	P51815;A6NK62	ZN75D_HUMAN;.	K	294;199	ENSP00000359802:E294K;ENSP00000359800:E199K	ENSP00000359800:E199K	E	-	1	0	ZNF75D	134249388	0.000000	0.05858	0.534000	0.28014	0.260000	0.26232	-0.149000	0.10204	1.643000	0.50594	0.415000	0.27848	GAA		0.373	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1		NM_007131		14	105	0	0	0	0.003163	0	14	105		
GRN	2896	broad.mit.edu	37	17	42427695	42427696	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:42427695_42427696insCC	ENST00000053867.3	+	5	511_512	c.449_450insCC	c.(448-453)tgccccfs	p.CP150fs	GRN_ENST00000589265.1_Frame_Shift_Ins_p.CP150fs	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	150					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGGTGCTGCCCCATGCCCC	0.619																																						uc002igp.1		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(448-450)TGCfs		granulin precursor																																				SO:0001589	frameshift_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42427695_42427696insCC	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.452_453dupCC	17.37:g.42427698_42427699dupCC	ENSP00000053867:p.Cys150fs					GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank	p.C150fs	NM_002087	NP_002078	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	5	668_669	+		Prostate(33;0.0181)	150					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Frame_Shift_Ins	INS	ENST00000053867.3	37	c.449_450insCC	CCDS11483.1																																																																																				0.619	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1		NM_002087		12	225	NaN	NaN	NaN	NaN	NaN	12	225	---	---
MADCAM1	8174	broad.mit.edu	37	19	504758	504758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:504758delG	ENST00000215637.3	+	5	988	c.942delG	c.(940-942)gcgfs	p.A314fs	TPGS1_ENST00000359315.5_5'Flank|MADCAM1_ENST00000587541.1_Frame_Shift_Del_p.A95fs|MADCAM1_ENST00000382683.4_Frame_Shift_Del_p.A132fs|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Frame_Shift_Del_p.A227fs	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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)		CCAAACCTGCGGGTGACCAGC	0.672																																						uc002los.2		NaN																	0					0						c.(940-942)GCGfs		mucosal vascular addressin cell adhesion							48.0	55.0	53.0					19																	504758		2203	4299	6502	SO:0001589	frameshift_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:504758delG	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.942delG	19.37:g.504758delG	ENSP00000215637:p.Ala314fs					MADCAM1_uc002lot.2_Frame_Shift_Del_p.A227fs|MADCAM1_uc010drq.2_Frame_Shift_Del_p.A132fs|C19orf20_uc002lou.2_5'Flank	p.A314fs	NM_130760	NP_570116	Q13477	MADCA_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)	5	952	+		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	314			Extracellular (Potential).|Mucin-like.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Frame_Shift_Del	DEL	ENST00000215637.3	37	c.942delG	CCDS12028.1																																																																																				0.672	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1		NM_130760		15	113	NaN	NaN	NaN	NaN	NaN	15	113	---	---
PCK1	5105	broad.mit.edu	37	20	56136548	56136549	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:56136548_56136549insC	ENST00000319441.4	+	2	245_246	c.81_82insC	c.(82-84)aggfs	p.R28fs	PCK1_ENST00000535860.1_5'Flank|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	28					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCCAGGCAGTGAGGGAGTTTCT	0.569																																						uc002xyn.3		NaN																	0				skin(1)	1						c.(79-84)GTGAGGfs		cytosolic phosphoenolpyruvate carboxykinase 1																																				SO:0001589	frameshift_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56136548_56136549insC		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	Exception_encountered	20.37:g.56136548_56136549insC	ENSP00000319814:p.Arg28fs					PCK1_uc010zzm.1_5'UTR	p.V27fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		2	244_245	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		27_28					A8K437|B4DT64|Q8TCA3|Q9UJD2	Frame_Shift_Ins	INS	ENST00000319441.4	37	c.81_82insC	CCDS13460.1																																																																																				0.569	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2				15	215	NaN	NaN	NaN	NaN	NaN	15	215	---	---
CRYZL1	9946	broad.mit.edu	37	21	34994348	34994349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:34994348_34994349insT	ENST00000381554.3	-	4	255_256	c.170_171insA	c.(169-171)aagfs	p.K57fs	CRYZL1_ENST00000413017.2_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000381540.3_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000290244.5_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000445393.1_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000361534.2_Frame_Shift_Ins_p.K81fs|AP000304.12_ENST00000429238.1_Intron	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	57					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GAAATAAATCCTTTTTCATCTT	0.327																																						uc011adw.1		NaN																	0					0						c.(169-171)AAGfs		crystallin, zeta-like 1																																				SO:0001589	frameshift_variant	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34994348_34994349insT	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.171dupA	21.37:g.34994353_34994353dupT	ENSP00000370966:p.Lys57fs					DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Frame_Shift_Ins_p.K81fs|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Frame_Shift_Ins_p.K57fs	p.K57fs	NM_145858	NP_665857	O95825	QORL1_HUMAN			4	350_351	-			57					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Frame_Shift_Ins	INS	ENST00000381554.3	37	c.170_171insA	CCDS13633.2																																																																																				0.327	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2		NM_145858		31	230	NaN	NaN	NaN	NaN	NaN	31	230	---	---
NAGA	4668	broad.mit.edu	37	22	42463826	42463827	+	In_Frame_Ins	INS	-	-	CAACTGGCATCGCGA			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42463826_42463827insCAACTGGCATCGCGA	ENST00000396398.3	-	3	798_799	c.266_267insTCGCGATGCCAGTTG	c.(265-267)ggc>ggTCGCGATGCCAGTTGc	p.89_90insRDASC	NAGA_ENST00000403363.1_In_Frame_Ins_p.89_90insRDASC|NAGA_ENST00000402937.1_In_Frame_Ins_p.89_90insRDASC	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	89					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCATCAGGCGGCCACTGGCATC	0.614																																						uc003bbx.2		NaN																	0				central_nervous_system(1)	1						c.(265-267)GGC>GGTCGCGATGCCAGTTGC		alpha-N-acetylgalactosaminidase precursor																																				SO:0001652	inframe_insertion	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42463826_42463827insCAACTGGCATCGCGA		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.266_267insTCGCGATGCCAGTTG	22.37:g.42463826_42463827insCAACTGGCATCGCGA	ENSP00000379680:p.Gly89_Arg90insArgAspAlaSerCys					NAGA_uc003bby.2_In_Frame_Ins_p.89_90insRDASC|NAGA_uc003bbw.3_In_Frame_Ins_p.89_90insRDASC	p.89_90insRDASC	NM_000262	NP_000253	P17050	NAGAB_HUMAN			4	403_404	-			89_90						In_Frame_Ins	INS	ENST00000396398.3	37	c.266_267insTCGCGATGCCAGTTG	CCDS14030.1																																																																																				0.614	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1				8	185	NaN	NaN	NaN	NaN	NaN	8	185	---	---
