#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								4769	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C			4769		Missense_Mutation	SNP	HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C	p.M100T		37	c.299		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND2			T			4769	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361453	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								15247	SO:0001628	intergenic_variant	4519																															Unknown.37:g.0G>A			15247		Missense_Mutation	SNP	superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C	p.G167D		37	c.500		MT																																																																																			-	superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N	0	0					MT-CYB			G			15247	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	54_36p	missense	SNP	NULL	A
DOCK8	81704	genome.wustl.edu	37	9	286554	286554	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr9:286554G>C	ENST00000453981.1	+	3	362	c.250G>C	c.(250-252)Ggg>Cgg	p.G84R	DOCK8_ENST00000469391.1_Missense_Mutation_p.G16R|DOCK8_ENST00000432829.2_Missense_Mutation_p.G16R			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	84					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAGGAGCTCGGGGACTTCAC	0.517																																																0			9											122.0	107.0	112.0					9																	286554		2203	4300	6503	276554	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.250G>C	9.37:g.286554G>C	ENSP00000408464:p.Gly84Arg		276554	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	HMMPfam_Ded_cyto	p.G16R	ENST00000453981.1	37	c.46	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488630	0.44249	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	M	0.63428	1.95	0.50813	D	0.999895	D;D;D	0.89917	1.0;0.997;0.993	D;D;D	0.97110	1.0;0.949;0.94	T	0.64287	-0.6443	10	0.54805	T	0.06	.	19.3432	0.94352	0.0:0.0:1.0:0.0	.	16;84;84	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	R	84;84;16;16;16;16	ENSP00000408464:G84R;ENSP00000394888:G16R;ENSP00000417082:G16R;ENSP00000418318:G16R;ENSP00000419438:G16R	ENSP00000287364:G84R	G	+	1	0	DOCK8	276554	1.000000	0.71417	0.985000	0.45067	0.022000	0.10575	6.241000	0.72369	2.574000	0.86865	0.563000	0.77884	GGG	-	NULL		0.517	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	G	XM_036307		276554	+1	no_errors	NM_203447	genbank	human	validated	54_36p	missense	SNP	1.000	C
KRTAP5-6	440023	genome.wustl.edu	37	11	1718848	1718848	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:1718848T>G	ENST00000382160.1	+	1	424	c.373T>G	c.(373-375)Tgc>Ggc	p.C125G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	125						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCATTTGCTGCCAGTGCAA	0.567																																																0			11											117.0	128.0	124.0					11																	1718848		2202	4299	6501	1675424	SO:0001583	missense	440023			AB126075	CCDS31332.1	11p15.5	2008-02-05			ENSG00000205864	ENSG00000205864		"""Keratin associated proteins"""	23600	protein-coding gene	gene with protein product						15144888	Standard	NM_001012416		Approved	KRTAP5.6	uc001lua.3	Q6L8G9	OTTHUMG00000043932	ENST00000382160.1:c.373T>G	11.37:g.1718848T>G	ENSP00000371595:p.Cys125Gly		1675424	A1L452	Missense_Mutation	SNP	PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_VWFC_1	p.C125G	ENST00000382160.1	37	c.373	CCDS31332.1	11	.	.	.	.	.	.	.	.	.	.	t	1.395	-0.579817	0.03854	.	.	ENSG00000205864	ENST00000382160	T	0.07688	3.17	4.11	2.95	0.34219	.	.	.	.	.	T	0.12689	0.0308	M	0.78801	2.425	0.25203	N	0.990034	B	0.06786	0.001	B	0.11329	0.006	T	0.16808	-1.0390	9	0.72032	D	0.01	.	7.7435	0.28856	0.0:0.0:0.213:0.787	.	125	Q6L8G9	KRA56_HUMAN	G	125	ENSP00000371595:C125G	ENSP00000371595:C125G	C	+	1	0	KRTAP5-6	1675424	1.000000	0.71417	0.975000	0.42487	0.025000	0.11179	1.441000	0.35035	0.441000	0.26529	0.429000	0.28392	TGC	-	PatternScan_VWFC_1		0.567	KRTAP5-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-6	protein_coding	OTTHUMT00000102339.2	T			1675424	+1	no_errors	NM_001012416	genbank	human	validated	54_36p	missense	SNP	0.997	G
CLUAP1	23059	genome.wustl.edu	37	16	3558458	3558458	+	Missense_Mutation	SNP	T	T	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:3558458T>G	ENST00000576634.1	+	4	533	c.389T>G	c.(388-390)cTt>cGt	p.L130R	CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Missense_Mutation_p.L130R|CLUAP1_ENST00000572600.1_5'Flank|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.L130R	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	130					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AAGTTTGATCTTGGCTCAAAG	0.458																																																0			16											130.0	111.0	117.0					16																	3558458		2197	4300	6497	3498459	SO:0001583	missense	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.389T>G	16.37:g.3558458T>G	ENSP00000460850:p.Leu130Arg		3498459	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	HMMPfam_Cluap1	p.L130R	ENST00000576634.1	37	c.389	CCDS32381.1	16	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989954	0.54041	.	.	ENSG00000103351	ENST00000341633	T	0.52526	0.66	4.89	4.89	0.63831	.	0.201917	0.41500	D	0.000876	T	0.67636	0.2914	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.71636	-0.4533	10	0.62326	D	0.03	-14.4315	12.4561	0.55706	0.0:0.0:0.0:1.0	.	130	Q96AJ1	CLUA1_HUMAN	R	130	ENSP00000344392:L130R	ENSP00000344392:L130R	L	+	2	0	CLUAP1	3498459	1.000000	0.71417	0.937000	0.37676	0.226000	0.24999	7.544000	0.82117	1.840000	0.53500	0.383000	0.25322	CTT	-	HMMPfam_Cluap1		0.458	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUAP1	protein_coding	OTTHUMT00000437883.2	T	NM_024793		3498459	+1	no_errors	NM_015041	genbank	human	provisional	54_36p	missense	SNP	0.984	G
OTOP1	133060	genome.wustl.edu	37	4	4199526	4199526	+	Silent	SNP	C	C	T	rs145547332	byFrequency	TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:4199526C>T	ENST00000296358.4	-	5	1059	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	345					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGATGAGTGCCGACTCGCTCT	0.577													C|||	22	0.00439297	0.0008	0.0	5008	,	,		18223	0.0		0.0	False		,,,				2504	0.0215															0			4						C		2,4404	4.2+/-10.8	0,2,2201	49.0	48.0	48.0		1035	0.4	0.9	4	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous	OTOP1	NM_177998.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		345/613	4199526	2,13004	2203	4300	6503	4250427	SO:0001819	synonymous_variant	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1035G>A	4.37:g.4199526C>T			4250427	A1L476	Silent	SNP	HMMPfam_DUF270	p.S345	ENST00000296358.4	37	c.1035	CCDS3372.1	4																																																																																			-	HMMPfam_DUF270		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	protein_coding	OTTHUMT00000206661.2	C	NM_177998		4250427	-1	no_errors	NM_177998	genbank	human	provisional	54_36p	silent	SNP	0.987	T
ITPR1	3708	genome.wustl.edu	37	3	4709173	4709173	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:4709173A>T	ENST00000443694.2	+	15	1781	c.1781A>T	c.(1780-1782)cAc>cTc	p.H594L	ITPR1_ENST00000302640.8_Missense_Mutation_p.H594L|ITPR1_ENST00000423119.2_Missense_Mutation_p.H609L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.H594L|ITPR1_ENST00000357086.4_Missense_Mutation_p.H609L|ITPR1_ENST00000354582.6_Missense_Mutation_p.H609L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	609					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGAAAAACACATTACCGCG	0.522																																																0			3											64.0	59.0	61.0					3																	4709173		1942	4164	6106	4684173	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1781A>T	3.37:g.4709173A>T	ENSP00000401671:p.His594Leu		4684173	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans	p.H609L	ENST00000443694.2	37	c.1826	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806363	0.70682	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	4.74	4.74	0.60224	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.991	D	0.97253	0.9899	10	0.25106	T	0.35	.	14.4311	0.67251	1.0:0.0:0.0:0.0	.	594;609;609	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	L	609;594;609;609;609;594;594	ENSP00000306253:H594L;ENSP00000346595:H609L;ENSP00000405934:H609L;ENSP00000349597:H609L;ENSP00000397885:H594L;ENSP00000401671:H594L	ENSP00000306253:H594L	H	+	2	0	ITPR1	4684173	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	9.049000	0.93837	1.994000	0.58287	0.454000	0.30748	CAC	-	HMMPfam_RYDR_ITPR		0.522	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	A	NM_002222		4684173	+1	no_errors	NM_001099952	genbank	human	validated	54_36p	missense	SNP	1.000	T
ALG1	56052	genome.wustl.edu	37	16	5133715	5133715	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:5133715G>A	ENST00000262374.5	+	12	1251	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	ALG1_ENST00000544428.1_Missense_Mutation_p.G296D|ALG1_ENST00000588623.1_Missense_Mutation_p.G296D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	407					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				GAAGAAAATGGCCTGGTCTTT	0.587																																																0			16											32.0	39.0	37.0					16																	5133715		1345	2293	3638	5073716	SO:0001583	missense	56052			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.1220G>A	16.37:g.5133715G>A	ENSP00000262374:p.Gly407Asp		5073716	B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	superfamily_SSF53756,HMMPfam_Glycos_transf_1	p.G407D	ENST00000262374.5	37	c.1220	CCDS10528.1	16	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382637	0.61845	.	.	ENSG00000033011	ENST00000262374;ENST00000544428	D;D	0.86164	-2.08;-2.08	5.12	5.12	0.69794	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96682	0.9504	10	0.87932	D	0	-20.9201	17.1593	0.86800	0.0:0.0:1.0:0.0	.	296;407	B4DP08;Q9BT22	.;ALG1_HUMAN	D	407;296	ENSP00000262374:G407D;ENSP00000440019:G296D	ENSP00000262374:G407D	G	+	2	0	ALG1	5073716	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	8.662000	0.91130	2.402000	0.81655	0.650000	0.86243	GGC	-	superfamily_SSF53756,HMMPfam_Glycos_transf_1		0.587	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	protein_coding	OTTHUMT00000251716.2	G	NM_019109		5073716	+1	no_errors	NM_019109	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	A	rs587782664		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr17:7577570C>A	ENST00000269305.4	-	7	900	c.711G>T	c.(709-711)atG>atT	p.M237I	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGTTACACATGTAGTTGT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	17	GRCh37	CM011014	TP53	M							130.0	102.0	112.0					17																	7577570		2203	4300	6503	7518295	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.711G>T	17.37:g.7577570C>A	ENSP00000269305:p.Met237Ile		7518295	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.M237I	ENST00000269305.4	37	c.711	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282984	0.80692	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518295	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FASTKD3	79072	genome.wustl.edu	37	5	7867144	7867144	+	Silent	SNP	A	A	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr5:7867144A>G	ENST00000264669.5	-	2	1189	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	351					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCTTTTGTAAAAAATGTGT	0.473																																																0			5											73.0	73.0	73.0					5																	7867144		2203	4300	6503	7920144	SO:0001819	synonymous_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1053T>C	5.37:g.7867144A>G			7920144	Q9BVD3	Silent	SNP	HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP	p.F351	ENST00000264669.5	37	c.1053	CCDS3873.1	5																																																																																			-	NULL		0.473	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	protein_coding	OTTHUMT00000253673.1	A	NM_024091		7920144	-1	no_errors	NM_024091	genbank	human	validated	54_36p	silent	SNP	0.995	G
MYH8	4626	genome.wustl.edu	37	17	10317251	10317251	+	Missense_Mutation	SNP	C	C	G	rs144477514		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr17:10317251C>G	ENST00000403437.2	-	12	1209	c.1115G>C	c.(1114-1116)cGt>cCt	p.R372P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	372	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCTCCTCACGCTGCTTTTG	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											175.0	167.0	170.0					17																	10317251		2203	4300	6503	10257976	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1115G>C	17.37:g.10317251C>G	ENSP00000384330:p.Arg372Pro		10257976	Q14910	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.R372P	ENST00000403437.2	37	c.1115	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403479	0.83230	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.87809	-2.3	4.85	4.85	0.62838	Myosin head, motor domain (2);	0.000000	0.37577	U	0.002038	D	0.95137	0.8424	M	0.92649	3.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96183	0.9132	10	0.87932	D	0	.	18.164	0.89719	0.0:1.0:0.0:0.0	.	372	P13535	MYH8_HUMAN	P	372	ENSP00000384330:R372P	ENSP00000252173:R372P	R	-	2	0	MYH8	10257976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.534000	0.85438	0.650000	0.86243	CGT	-	superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	C	NM_002472		10257976	-1	no_errors	NM_002472	genbank	human	validated	54_36p	missense	SNP	0.999	G
ZNF627	199692	genome.wustl.edu	37	19	11727511	11727511	+	Splice_Site	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:11727511C>T	ENST00000361113.5	+	4	401	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	ZNF627_ENST00000588174.1_Intron	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	65	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TCTGACAAGTCATATTCCAGA	0.303																																					Melanoma(112;173 1614 10731 17751 23322)											0			19											41.0	39.0	40.0					19																	11727511		1819	4096	5915	11588511	SO:0001630	splice_region_variant	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.192-1C>T	19.37:g.11727511C>T			11588511	O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.H65Y	ENST00000361113.5	37	c.193	CCDS42502.1	19	.	.	.	.	.	.	.	.	.	.	c	2.092	-0.408101	0.04832	.	.	ENSG00000198551	ENST00000361113	T	0.07216	3.21	1.23	0.0729	0.14389	Krueppel-associated box (2);	.	.	.	.	T	0.09730	0.0239	M	0.69523	2.12	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30534	-0.9975	9	0.51188	T	0.08	.	4.3727	0.11255	0.3885:0.6115:0.0:0.0	.	65	Q7L945	ZN627_HUMAN	Y	65	ENSP00000354414:H65Y	ENSP00000354414:H65Y	H	+	1	0	ZNF627	11588511	0.000000	0.05858	0.002000	0.10522	0.131000	0.20780	0.019000	0.13444	0.079000	0.16929	0.313000	0.20887	CAT	-	HMMSmart_KRAB		0.303	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	protein_coding	OTTHUMT00000458875.1	C	NM_145295	Missense_Mutation	11588511	+1	no_errors	NM_145295	genbank	human	validated	54_36p	missense	SNP	0.053	T
SCIN	85477	genome.wustl.edu	37	7	12668847	12668847	+	Splice_Site	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:12668847G>A	ENST00000297029.5	+	9	1420	c.1319G>A	c.(1318-1320)tGg>tAg	p.W440*	SCIN_ENST00000519209.1_Splice_Site_p.W193*|SCIN_ENST00000445618.2_Splice_Site_p.W193*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	440	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ATCTACACGTGGTGAGTTTAT	0.403																																																0			7											151.0	141.0	144.0					7																	12668847		1878	4124	6002	12635372	SO:0001630	splice_region_variant	85477			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1319+1G>A	7.37:g.12668847G>A			12635372	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Nonsense_Mutation	SNP	superfamily_C-terminal gelsolin-like domain of Sec23/24,HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins	p.W193*	ENST00000297029.5	37	c.578	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455655	0.84209	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	.	.	.	5.24	5.24	0.73138	.	0.122269	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9518	19.197	0.93693	0.0:0.0:1.0:0.0	.	.	.	.	X	440;193;193	.	ENSP00000297029:W440X	W	+	2	0	SCIN	12635372	1.000000	0.71417	0.994000	0.49952	0.167000	0.22549	9.420000	0.97426	2.599000	0.87857	0.462000	0.41574	TGG	-	superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin		0.403	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	protein_coding	OTTHUMT00000326041.1	G	NM_033128	Nonsense_Mutation	12635372	+1	no_errors	NM_033128	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
ZNF492	57615	genome.wustl.edu	37	19	22847916	22847916	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:22847916G>A	ENST00000456783.2	+	4	1689	c.1445G>A	c.(1444-1446)tGt>tAt	p.C482Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	482					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(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGAAGAATGTGGCAAAGCC	0.373																																																0			19											27.0	39.0	35.0					19																	22847916		2024	4246	6270	22639756	SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1445G>A	19.37:g.22847916G>A	ENSP00000413660:p.Cys482Tyr		22639756	Q08EI7|Q08EI8	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.C482Y	ENST00000456783.2	37	c.1445	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	7.132	0.580032	0.13686	.	.	ENSG00000229676	ENST00000456783	D	0.85861	-2.04	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92293	0.7555	H	0.95365	3.66	0.30403	N	0.77987	D	0.55172	0.97	P	0.59487	0.858	D	0.87208	0.2245	9	0.62326	D	0.03	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	482	Q9P255	ZN492_HUMAN	Y	482	ENSP00000413660:C482Y	ENSP00000413660:C482Y	C	+	2	0	ZNF492	22639756	1.000000	0.71417	0.485000	0.27403	0.495000	0.33615	6.473000	0.73572	0.269000	0.21961	0.274000	0.19336	TGT	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.373	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	protein_coding	OTTHUMT00000464581.1	G	NM_020855		22639756	+1	no_errors	NM_020855	genbank	human	validated	54_36p	missense	SNP	0.999	A
CDH10	1008	genome.wustl.edu	37	5	24487960	24487960	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr5:24487960C>T	ENST00000264463.4	-	12	2686	c.2179G>A	c.(2179-2181)Gca>Aca	p.A727T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	727					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGGGGGGTGCGGTGGGGTCA	0.458										HNSCC(23;0.051)																																						0			5																																								24523717	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2179G>A	5.37:g.24487960C>T	ENSP00000264463:p.Ala727Thr		24523717	Q9ULB3	Missense_Mutation	SNP	superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.A727T	ENST00000264463.4	37	c.2179	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657163	0.88154	.	.	ENSG00000040731	ENST00000264463	T	0.78924	-1.22	5.92	5.92	0.95590	Cadherin, cytoplasmic domain (1);	0.089346	0.85682	D	0.000000	D	0.87966	0.6311	M	0.76838	2.35	0.58432	D	0.999997	D	0.76494	0.999	D	0.63793	0.918	D	0.88078	0.2805	10	0.62326	D	0.03	.	19.3088	0.94175	0.0:1.0:0.0:0.0	.	727	Q9Y6N8	CAD10_HUMAN	T	727	ENSP00000264463:A727T	ENSP00000264463:A727T	A	-	1	0	CDH10	24523717	1.000000	0.71417	0.364000	0.25888	0.917000	0.54804	7.702000	0.84576	2.809000	0.96659	0.655000	0.94253	GCA	-	HMMPfam_Cadherin_C		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24523717	-1	no_errors	NM_006727	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
HIST1H2BE	8344	genome.wustl.edu	37	6	26184080	26184080	+	Silent	SNP	G	G	T	rs529756458		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr6:26184080G>T	ENST00000356530.3	+	1	123	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V19V(1)		endometrium(1)|large_intestine(2)|lung(1)	4						AGAAGGCCGTGACCAAGGCGC	0.552																																																1	Substitution - coding silent(1)	large_intestine(1)	6											120.0	111.0	114.0					6																	26184080		2203	4300	6503	26292059	SO:0001819	synonymous_variant	8344			Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.57G>T	6.37:g.26184080G>T			26292059	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	superfamily_Histone-fold,HMMSmart_SM00427,HMMPfam_Histone,PatternScan_HISTONE_H2B	p.V19	ENST00000356530.3	37	c.57	CCDS4588.1	6																																																																																			-	superfamily_Histone-fold		0.552	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BE	protein_coding	OTTHUMT00000040090.1	G	NM_003523		26292059	+1	no_errors	NM_003523	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
CPVL	54504	genome.wustl.edu	37	7	29105640	29105640	+	Splice_Site	SNP	G	G	C	rs376043843		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:29105640G>C	ENST00000409850.1	-	14	1608	c.962C>G	c.(961-963)aCg>aGg	p.T321R	CPVL_ENST00000396276.3_Splice_Site_p.T321R|CPVL_ENST00000265394.5_Splice_Site_p.T321R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	321						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGTCATTACCGTGCACCGCAA	0.323																																																0			7											102.0	100.0	101.0					7																	29105640		2203	4300	6503	29072165	SO:0001630	splice_region_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.963+1C>G	7.37:g.29105640G>C			29072165	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10,PatternScan_CARBOXYPEPT_SER_SER	p.T321R	ENST00000409850.1	37	c.962	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858956	0.17178	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995	T;T;T	0.30448	1.53;1.53;1.53	5.42	-5.77	0.02369	.	0.466272	0.23700	N	0.045433	T	0.14743	0.0356	L	0.31664	0.95	0.38250	D	0.94156	B	0.17465	0.022	B	0.23275	0.045	T	0.07947	-1.0746	10	0.21540	T	0.41	-7.6804	6.2195	0.20673	0.2871:0.0:0.1669:0.5461	.	321	Q9H3G5	CPVL_HUMAN	R	321;321;321;205	ENSP00000265394:T321R;ENSP00000379572:T321R;ENSP00000387164:T321R	ENSP00000265394:T321R	T	-	2	0	CPVL	29072165	1.000000	0.71417	0.939000	0.37840	0.476000	0.33039	0.513000	0.22770	-0.773000	0.04596	-0.469000	0.05056	ACG	-	superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S10		0.323	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	protein_coding	OTTHUMT00000328305.1	G	NM_019029	Missense_Mutation	29072165	-1	no_errors	NM_019029	genbank	human	reviewed	54_36p	missense	SNP	0.998	C
MEDAG	84935	genome.wustl.edu	37	13	31495769	31495769	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr13:31495769C>A	ENST00000380482.4	+	4	898	c.573C>A	c.(571-573)agC>agA	p.S191R	TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	191					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											AAAATTTAAGCTTTGCATATG	0.348																																																0			13											97.0	98.0	97.0					13																	31495769		2203	4300	6503	30393769	SO:0001583	missense	84935			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.573C>A	13.37:g.31495769C>A	ENSP00000369849:p.Ser191Arg		30393769	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	NULL	p.S191R	ENST00000380482.4	37	c.573	CCDS9338.1	13	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447307	0.25987	.	.	ENSG00000102802	ENST00000380482	T	0.49139	0.79	5.47	-0.195	0.13236	.	0.267705	0.43747	D	0.000540	T	0.32285	0.0824	L	0.27053	0.805	0.24382	N	0.994787	B	0.31859	0.343	B	0.33254	0.16	T	0.29088	-1.0023	10	0.72032	D	0.01	-15.3446	10.312	0.43714	0.0:0.575:0.0:0.425	.	191	Q5VYS4	CM033_HUMAN	R	191	ENSP00000369849:S191R	ENSP00000369849:S191R	S	+	3	2	C13orf33	30393769	0.995000	0.38212	0.339000	0.25562	0.032000	0.12392	0.121000	0.15667	-0.007000	0.14345	0.563000	0.77884	AGC	-	NULL		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C13orf33	protein_coding	OTTHUMT00000044375.1	C	NM_032849		30393769	+1	no_errors	NM_032849	genbank	human	validated	54_36p	missense	SNP	0.885	A
SRCAP	10847	genome.wustl.edu	37	16	30750759	30750759	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:30750759C>A	ENST00000262518.4	+	34	9783	c.9398C>A	c.(9397-9399)aCt>aAt	p.T3133N	SRCAP_ENST00000395059.2_Missense_Mutation_p.T3071N|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.T2975N	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3133					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCACTAGAGACTGAGAAGTTG	0.652																																																0			16											36.0	41.0	39.0					16																	30750759		2197	4300	6497	30658260	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9398C>A	16.37:g.30750759C>A	ENSP00000262518:p.Thr3133Asn		30658260	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	HMMPfam_HSA,HMMSmart_SM00573,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_AT_hook,HMMSmart_SM00384	p.T3133N	ENST00000262518.4	37	c.9398	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	7.999	0.754898	0.15846	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.73;-2.76;-2.75	4.97	2.86	0.33363	.	0.291214	0.24681	N	0.036461	T	0.80287	0.4595	N	0.08118	0	0.22639	N	0.998903	B;B	0.22983	0.078;0.047	B;B	0.21917	0.037;0.017	T	0.74028	-0.3796	10	0.72032	D	0.01	-9.5383	11.7738	0.51975	0.0:0.5453:0.4547:0.0	.	3071;3133	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	N	3133;3071;2975	ENSP00000262518:T3133N;ENSP00000378499:T3071N;ENSP00000343042:T2975N	ENSP00000262518:T3133N	T	+	2	0	SRCAP	30658260	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.300000	0.19156	1.280000	0.44463	0.462000	0.41574	ACT	-	NULL		0.652	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30658260	+1	no_errors	NM_006662	genbank	human	validated	54_36p	missense	SNP	0.987	A
RPS10	6204	genome.wustl.edu	37	6	34392873	34392873	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr6:34392873G>T	ENST00000326199.8	-	2	219	c.126C>A	c.(124-126)aaC>aaA	p.N42K	RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Missense_Mutation_p.N42K|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.N42K	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						TGACATGAAGGTTGGGCACAT	0.542																																					Colon(121;749 1624 4895 8687 22360)											0			6											93.0	78.0	83.0					6																	34392873		2203	4300	6503	34500851	SO:0001583	missense	6204			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.126C>A	6.37:g.34392873G>T	ENSP00000347271:p.Asn42Lys		34500851	B2R4E3|Q5TZC0	Missense_Mutation	SNP	HMMPfam_S10_plectin	p.N42K	ENST00000326199.8	37	c.126	CCDS4792.1	6	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131853	0.56828	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	D;D	0.82433	-1.55;-1.61	5.3	0.869	0.19096	Plectin/S10, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81936	0.4928	M	0.93808	3.46	0.80722	D	1	B	0.18610	0.029	B	0.27076	0.076	T	0.79612	-0.1731	10	0.72032	D	0.01	-18.7678	14.2833	0.66228	0.2177:0.0:0.7823:0.0	.	42	P46783	RS10_HUMAN	K	42	ENSP00000347271:N42K;ENSP00000363169:N42K	ENSP00000347271:N42K	N	-	3	2	RPS10	34500851	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.997000	0.29731	0.082000	0.17018	0.491000	0.48974	AAC	-	HMMPfam_S10_plectin		0.542	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS10	protein_coding	OTTHUMT00000040230.1	G			34500851	-1	no_errors	NM_001014	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ARAP2	116984	genome.wustl.edu	37	4	36126558	36126558	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:36126558T>A	ENST00000303965.4	-	22	4161	c.3672A>T	c.(3670-3672)aaA>aaT	p.K1224N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1224	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATGCTCCATATTTTTTAATTC	0.368																																																0			4											153.0	155.0	154.0					4																	36126558		2203	4300	6503	35802953	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3672A>T	4.37:g.36126558T>A	ENSP00000302895:p.Lys1224Asn		35802953	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,HMMPfam_RA	p.K1224N	ENST00000303965.4	37	c.3672	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485229	0.63962	.	.	ENSG00000047365	ENST00000303965	T	0.19250	2.16	5.24	-2.51	0.06365	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	M	0.67700	2.07	0.33940	D	0.643126	D	0.55385	0.971	P	0.59424	0.857	T	0.45527	-0.9255	10	0.49607	T	0.09	.	12.2014	0.54328	0.0:0.3602:0.0:0.6398	.	1224	Q8WZ64	ARAP2_HUMAN	N	1224	ENSP00000302895:K1224N	ENSP00000302895:K1224N	K	-	3	2	ARAP2	35802953	0.943000	0.32029	0.729000	0.30791	0.965000	0.64279	-0.050000	0.11904	-0.406000	0.07588	-0.472000	0.04984	AAA	-	superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP		0.368	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	T	NM_015230		35802953	-1	no_errors	NM_015230	genbank	human	reviewed	54_36p	missense	SNP	0.994	A
SLC22A14	9389	genome.wustl.edu	37	3	38357907	38357907	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:38357907T>A	ENST00000273173.4	+	9	1716	c.1625T>A	c.(1624-1626)aTc>aAc	p.I542N	SLC22A14_ENST00000448498.1_Missense_Mutation_p.I542N	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	542					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTGCCCATCTTTCTCTGC	0.612																																																0			3											120.0	90.0	101.0					3																	38357907		2203	4300	6503	38332911	SO:0001583	missense	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1625T>A	3.37:g.38357907T>A	ENSP00000273173:p.Ile542Asn		38332911	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1	p.I542N	ENST00000273173.4	37	c.1625	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	T	9.636	1.137700	0.21123	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.59364	0.27;0.27	4.2	1.4	0.22301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.352176	0.33591	N	0.004756	T	0.37758	0.1015	L	0.35487	1.065	0.09310	N	1	B	0.32382	0.368	B	0.31191	0.125	T	0.18429	-1.0337	10	0.44086	T	0.13	.	3.3876	0.07277	0.1931:0.1203:0.0:0.6866	.	542	Q9Y267	S22AE_HUMAN	N	542;527;542	ENSP00000396283:I542N;ENSP00000273173:I542N	ENSP00000273173:I542N	I	+	2	0	SLC22A14	38332911	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.842000	0.27627	0.280000	0.22209	0.533000	0.62120	ATC	-	superfamily_MFS general substrate transporter		0.612	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	protein_coding	OTTHUMT00000253742.3	T	NM_004803		38332911	+1	no_errors	NM_004803	genbank	human	validated	54_36p	missense	SNP	0.008	A
EEF1A1P24	645715	genome.wustl.edu	37	3	39400618	39400618	+	IGR	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:39400618G>T								CCR8 (25447 upstream) : SLC25A38 (24220 downstream)																							CCAATTTCTGGTTGGAATGGT	0.433																																																0			3																																								39375622	SO:0001628	intergenic_variant	645715																															3.37:g.39400618G>T			39375622		RNA	SNP	-	NULL		37	NULL		3																																																																																			-	-	0	0.433					LOC645715			G			39375622	+1	pseudogene	XR_017484	genbank	human	model	54_36p	rna	SNP	1.000	T
KIAA0355	9710	genome.wustl.edu	37	19	34791869	34791869	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:34791869T>C	ENST00000299505.6	+	2	1364	c.491T>C	c.(490-492)aTt>aCt	p.I164T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	164										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTCCAGGACATTGAGGTAGAG	0.393																																																0			19											61.0	50.0	54.0					19																	34791869		2201	4299	6500	39483709	SO:0001583	missense	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.491T>C	19.37:g.34791869T>C	ENSP00000299505:p.Ile164Thr		39483709	Q2M3W4	Missense_Mutation	SNP	NULL	p.I164T	ENST00000299505.6	37	c.491	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420205	0.62622	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.057153	0.64402	D	0.000001	T	0.41419	0.1158	N	0.19112	0.55	0.58432	D	0.999998	P	0.40731	0.728	B	0.39339	0.297	T	0.49082	-0.8976	9	0.87932	D	0	-6.2603	15.4502	0.75268	0.0:0.0:0.0:1.0	.	164	O15063	K0355_HUMAN	T	164	.	ENSP00000299505:I164T	I	+	2	0	KIAA0355	39483709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.107000	0.64212	0.459000	0.35465	ATT	-	NULL		0.393	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	protein_coding	OTTHUMT00000451678.4	T	NM_014686		39483709	+1	no_errors	NM_014686	genbank	human	validated	54_36p	missense	SNP	1.000	C
DSCAM	1826	genome.wustl.edu	37	21	41719664	41719664	+	Silent	SNP	G	G	A	rs372861546		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr21:41719664G>A	ENST00000400454.1	-	6	1620	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	381	Ig-like C2-type 4.				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)				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)				ACTGGTATGCGCCCCCGTCAC	0.502																																					Melanoma(134;970 1778 1785 21664 32388)											0			21						G		0,4000		0,0,2000	272.0	249.0	257.0		1143	-3.7	0.9	21		257	1,8311		0,1,4155	no	coding-synonymous	DSCAM	NM_001389.3		0,1,6155	AA,AG,GG		0.012,0.0,0.0081		381/2013	41719664	1,12311	2000	4156	6156	40641534	SO:0001819	synonymous_variant	1826			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.1143C>T	21.37:g.41719664G>A			40641534	O60468	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.G381	ENST00000400454.1	37	c.1143	CCDS42929.1	21																																																																																			-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389		40641534	-1	no_errors	NM_001389	genbank	human	validated	54_36p	silent	SNP	0.906	A
SIK1	150094	genome.wustl.edu	37	21	44836633	44836633	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr21:44836633G>C	ENST00000270162.6	-	14	2473	c.2341C>G	c.(2341-2343)Ctg>Gtg	p.L781V		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	781					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CACTGCACCAGGACAAACGTG	0.602																																																0			21											38.0	39.0	39.0					21																	44836633		2202	4299	6501	43661061	SO:0001583	missense	150094			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.2341C>G	21.37:g.44836633G>C	ENSP00000270162:p.Leu781Val		43661061	A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_UBA	p.L781V	ENST00000270162.6	37	c.2341	CCDS33575.1	21	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049745	0.36181	.	.	ENSG00000142178	ENST00000270162	T	0.78003	-1.14	5.07	3.25	0.37280	.	0.078320	0.47852	D	0.000206	T	0.72906	0.3519	L	0.32530	0.975	0.32859	D	0.507702	D	0.58620	0.983	P	0.51016	0.656	T	0.79417	-0.1812	10	0.87932	D	0	.	9.2321	0.37444	0.167:0.0:0.833:0.0	.	781	P57059	SIK1_HUMAN	V	781	ENSP00000270162:L781V	ENSP00000270162:L781V	L	-	1	2	SIK1	43661061	1.000000	0.71417	0.910000	0.35882	0.619000	0.37552	1.695000	0.37763	1.136000	0.42199	0.655000	0.94253	CTG	-	NULL		0.602	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	protein_coding	OTTHUMT00000195654.1	G	NM_173354		43661061	-1	no_errors	NM_173354	genbank	human	validated	54_36p	missense	SNP	0.991	C
RYR1	6261	genome.wustl.edu	37	19	39008210	39008210	+	Silent	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:39008210C>T	ENST00000359596.3	+	66	9897	c.9897C>T	c.(9895-9897)ggC>ggT	p.G3299G	RYR1_ENST00000355481.4_Silent_p.G3299G|RYR1_ENST00000360985.3_Silent_p.G3299G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3299					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCCCGCCGGCGCCCCCCCAC	0.652																																																0			19											32.0	30.0	30.0					19																	39008210		2201	4299	6500	43700050	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9897C>T	19.37:g.39008210C>T			43700050	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.G3299	ENST00000359596.3	37	c.9897	CCDS33011.1	19																																																																																			-	NULL		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C			43700050	+1	no_errors	NM_000540	genbank	human	reviewed	54_36p	silent	SNP	0.152	T
ANO6	196527	genome.wustl.edu	37	12	45797309	45797309	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:45797309G>C	ENST00000320560.8	+	15	2072	c.1870G>C	c.(1870-1872)Gta>Cta	p.V624L	ANO6_ENST00000435642.1_Missense_Mutation_p.V624L|ANO6_ENST00000441606.2_Missense_Mutation_p.V606L|ANO6_ENST00000423947.3_Missense_Mutation_p.V645L|ANO6_ENST00000425752.2_Missense_Mutation_p.V624L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	624					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CATACAAGAAGTATTATTGCC	0.418																																																0			12											90.0	84.0	86.0					12																	45797309		2203	4300	6503	44083576	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1870G>C	12.37:g.45797309G>C	ENSP00000320087:p.Val624Leu		44083576	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	HMMPfam_DUF590	p.V624L	ENST00000320560.8	37	c.1870	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	8.193	0.796505	0.16327	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.31578	0.945	0.52501	D	0.999955	B;B;P;B	0.43231	0.314;0.003;0.801;0.014	B;B;P;B	0.44696	0.285;0.028;0.458;0.03	T	0.42849	-0.9427	10	0.06625	T	0.88	.	11.3853	0.49782	0.1425:0.0:0.8575:0.0	.	606;645;624;624	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	L	624;645;624;624;606	ENSP00000391417:V624L;ENSP00000409126:V645L;ENSP00000413840:V624L;ENSP00000320087:V624L;ENSP00000413137:V606L	ENSP00000320087:V624L	V	+	1	0	ANO6	44083576	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	5.822000	0.69265	2.878000	0.98634	0.650000	0.86243	GTA	-	HMMPfam_DUF590		0.418	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	protein_coding	OTTHUMT00000404822.1	G	XM_113743		44083576	+1	no_errors	NM_001025356	genbank	human	validated	54_36p	missense	SNP	1.000	C
MKNK1	8569	genome.wustl.edu	37	1	47048940	47048940	+	Silent	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:47048940C>A	ENST00000371946.4	-	3	259	c.96G>T	c.(94-96)cgG>cgT	p.R32R	MKNK1_ENST00000465783.1_Silent_p.R32R|MKNK1_ENST00000371944.4_5'UTR|MKNK1_ENST00000545730.1_Silent_p.R32R|MKNK1_ENST00000525888.1_5'Flank|MKNK1_ENST00000341183.5_Silent_p.R32R|MKNK1_ENST00000371945.4_Silent_p.R32R|MKNK1_ENST00000428112.2_Silent_p.R32R	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	32					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CCCGGCCCCTCCGCTTCTTCT	0.542																																																0			1											96.0	103.0	101.0					1																	47048940		2203	4300	6503	46821527	SO:0001819	synonymous_variant	8569			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.96G>T	1.37:g.47048940C>A			46821527	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.R32	ENST00000371946.4	37	c.96	CCDS538.1	1																																																																																			-	NULL		0.542	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	protein_coding	OTTHUMT00000021897.2	C	NM_003684		46821527	-1	no_errors	NM_003684	genbank	human	validated	54_36p	silent	SNP	0.981	A
KRT78	196374	genome.wustl.edu	37	12	53241716	53241716	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:53241716C>A	ENST00000304620.4	-	2	637	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	KRT78_ENST00000359499.4_Missense_Mutation_p.D82Y	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	192	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCTCCTGGTCCCGGCAGGCC	0.592																																																0			12											79.0	82.0	81.0					12																	53241716		2203	4300	6503	51527983	SO:0001583	missense	196374			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.574G>T	12.37:g.53241716C>A	ENSP00000306261:p.Asp192Tyr		51527983	A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.D192Y	ENST00000304620.4	37	c.574	CCDS8840.1	12	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898681	0.52227	.	.	ENSG00000170423	ENST00000359499;ENST00000304620	D;T	0.89681	-2.55;-0.96	5.21	1.35	0.21983	Filament (1);	0.243651	0.21349	N	0.075981	D	0.93716	0.7992	H	0.94264	3.515	0.28015	N	0.934733	D	0.62365	0.991	P	0.60345	0.873	D	0.87304	0.2307	10	0.72032	D	0.01	.	5.2321	0.15428	0.1337:0.566:0.0:0.3002	.	192	Q8N1N4	K2C78_HUMAN	Y	82;192	ENSP00000352479:D82Y;ENSP00000306261:D192Y	ENSP00000306261:D192Y	D	-	1	0	KRT78	51527983	0.007000	0.16637	0.937000	0.37676	0.613000	0.37349	0.264000	0.18497	0.045000	0.15804	0.555000	0.69702	GAC	-	HMMPfam_Filament		0.592	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	protein_coding	OTTHUMT00000406380.1	C	NM_173352		51527983	-1	no_errors	NM_173352	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CHD9	80205	genome.wustl.edu	37	16	53289530	53289530	+	Nonsense_Mutation	SNP	A	A	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr16:53289530A>T	ENST00000398510.3	+	18	4135	c.4048A>T	c.(4048-4050)Aag>Tag	p.K1350*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.K1350*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.K1350*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.K1350*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1350					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTCCAAAAAGGAAATAGA	0.343																																																0			16											95.0	89.0	91.0					16																	53289530		1827	4099	5926	51847031	SO:0001587	stop_gained	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4048A>T	16.37:g.53289530A>T	ENSP00000381522:p.Lys1350*		51847031	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_BRK	p.K1350*	ENST00000398510.3	37	c.4048		16	.	.	.	.	.	.	.	.	.	.	A	45	11.813977	0.99605	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3246	16.1069	0.81230	1.0:0.0:0.0:0.0	.	.	.	.	X	1350;1350;876	.	ENSP00000219084:K876X	K	+	1	0	CHD9	51847031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.198000	0.70561	0.528000	0.53228	AAG	-	superfamily_SSF52540		0.343	CHD9-020	KNOWN	basic	protein_coding	CHD9	protein_coding	OTTHUMT00000422345.1	A	NM_025134		51847031	+1	no_errors	NM_025134	genbank	human	validated	54_36p	nonsense	SNP	1.000	T
RNF180	285671	genome.wustl.edu	37	5	63510328	63510328	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr5:63510328G>C	ENST00000389100.4	+	4	1247	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.R392T	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	392	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGGCGTGAAAGATGGCTACAG	0.368																																																0			5											51.0	56.0	54.0					5																	63510328		2158	4278	6436	63546084	SO:0001583	missense	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1175G>C	5.37:g.63510328G>C	ENSP00000373752:p.Arg392Thr		63546084	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	NULL	p.R392T	ENST00000389100.4	37	c.1175	CCDS47219.1	5	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389726	0.42410	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.53206	0.63	5.85	5.85	0.93711	.	0.164703	0.50627	D	0.000112	T	0.61602	0.2360	M	0.67953	2.075	0.80722	D	1	P;D	0.76494	0.956;0.999	B;D	0.66351	0.444;0.943	T	0.63019	-0.6730	10	0.52906	T	0.07	-15.0525	8.6007	0.33742	0.162:0.0:0.838:0.0	.	392;392	Q86T96;Q86T96-2	RN180_HUMAN;.	T	392	ENSP00000373752:R392T	ENSP00000296615:R392T	R	+	2	0	RNF180	63546084	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.949000	0.56668	2.769000	0.95229	0.650000	0.86243	AGA	-	NULL		0.368	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	protein_coding	OTTHUMT00000368394.1	G	NM_178532		63546084	+1	no_errors	NM_178532	genbank	human	validated	54_36p	missense	SNP	1.000	C
SYT12	91683	genome.wustl.edu	37	11	66816175	66816175	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:66816175T>A	ENST00000393946.2	+	11	2375	c.1213T>A	c.(1213-1215)Ttg>Atg	p.L405M	SYT12_ENST00000525457.1_Missense_Mutation_p.L405M|SYT12_ENST00000527043.1_Missense_Mutation_p.L405M			Q8IV01	SYT12_HUMAN	synaptotagmin XII	405						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GAACCAGATGTTGGCCACGCT	0.647																																					Ovarian(65;2862 3307)											0			11											118.0	86.0	97.0					11																	66816175		2200	4295	6495	66572751	SO:0001583	missense	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1213T>A	11.37:g.66816175T>A	ENSP00000377520:p.Leu405Met		66572751		Missense_Mutation	SNP	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.L405M	ENST00000393946.2	37	c.1213	CCDS8154.1	11	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458689	0.63401	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.09255	3.0;3.0;3.0	4.47	1.51	0.23008	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000016	T	0.13329	0.0323	L	0.28776	0.89	0.58432	D	0.999997	D	0.54772	0.968	P	0.56278	0.795	T	0.03344	-1.1046	10	0.66056	D	0.02	.	6.7118	0.23282	0.0:0.5816:0.0:0.4184	.	405	Q8IV01	SYT12_HUMAN	M	405	ENSP00000377520:L405M;ENSP00000431400:L405M;ENSP00000435316:L405M	ENSP00000377520:L405M	L	+	1	2	SYT12	66572751	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	1.125000	0.31332	0.098000	0.17522	0.260000	0.18958	TTG	-	superfamily_C2_CaLB,HMMSmart_C2		0.647	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT12	protein_coding	OTTHUMT00000393129.1	T	NM_177963		66572751	+1	no_errors	NM_177963	genbank	human	provisional	54_36p	missense	SNP	1.000	A
CCDC33	80125	genome.wustl.edu	37	15	74564054	74564054	+	Missense_Mutation	SNP	G	G	A	rs77562762	byFrequency	TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr15:74564054G>A	ENST00000398814.3	+	6	988	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	CCDC33_ENST00000321288.5_Missense_Mutation_p.R389Q	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	389										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATCTTTCTCCGGGGAGTCAAC	0.582													g|||	147	0.029353	0.1089	0.0043	5008	,	,		17150	0.0		0.0	False		,,,				2504	0.0															0			15							GLN/ARG	355,3625		16,323,1651	37.0	40.0	39.0		557	0.4	1.0	15	dbSNP_131	39	2,8288		0,2,4143	yes	missense	CCDC33	NM_025055.3	43	16,325,5794	AA,AG,GG		0.0241,8.9196,2.9095	possibly-damaging	186/756	74564054	357,11913	1990	4145	6135	72351107	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.557G>A	15.37:g.74564054G>A	ENSP00000381795:p.Arg186Gln		72351107	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2	p.R186Q	ENST00000398814.3	37	c.557	CCDS42058.1	15	61	0.027930402930402932	59	0.11991869918699187	2	0.0055248618784530384	0	0.0	0	0.0	g	15.31	2.794599	0.50102	0.089196	2.41E-4	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.24908	1.83;2.19	4.48	0.453	0.16639	.	0.773622	0.11104	N	0.599308	T	0.00300	0.0009	M	0.62723	1.935	0.20563	N	0.999881	D;P	0.54047	0.964;0.935	B;B	0.41571	0.315;0.36	T	0.06991	-1.0796	10	0.36615	T	0.2	.	3.2346	0.06760	0.3037:0.0:0.5114:0.1848	.	389;186	C9JFX2;Q8N5R6-6	.;.	Q	389;186	ENSP00000325012:R389Q;ENSP00000381795:R186Q	ENSP00000325012:R389Q	R	+	2	0	CCDC33	72351107	0.000000	0.05858	0.953000	0.39169	0.935000	0.57460	0.030000	0.13688	-0.066000	0.12998	-0.260000	0.10688	CGG	-	NULL		0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	protein_coding	OTTHUMT00000419491.2	G	NM_182791		72351107	+1	no_errors	NM_025055	genbank	human	validated	54_36p	missense	SNP	0.987	A
CCT7	10574	genome.wustl.edu	37	2	73476288	73476288	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:73476288A>T	ENST00000258091.5	+	8	1094	c.953A>T	c.(952-954)gAt>gTt	p.D318V	CCT7_ENST00000539919.1_Missense_Mutation_p.D274V|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Missense_Mutation_p.D218V|CCT7_ENST00000540468.1_Missense_Mutation_p.D231V|CCT7_ENST00000538797.1_Missense_Mutation_p.D190V|CCT7_ENST00000398422.2_Missense_Mutation_p.D114V	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	318					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CCTGAGGAGGATCTGAAGAGG	0.522																																																0			2											93.0	97.0	96.0					2																	73476288		1994	4159	6153	73329796	SO:0001583	missense	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.953A>T	2.37:g.73476288A>T	ENSP00000258091:p.Asp318Val		73329796	A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like	p.D318V	ENST00000258091.5	37	c.953	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337148	0.81911	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	H	0.98965	4.385	0.80722	D	1	P;D;D;D;P;D	0.71674	0.951;0.998;0.995;0.993;0.903;0.992	P;D;D;D;D;D	0.74674	0.888;0.984;0.973;0.977;0.925;0.961	D	0.95659	0.8713	10	0.87932	D	0	-18.6726	13.586	0.61931	1.0:0.0:0.0:0.0	.	231;190;218;276;114;318	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	V	231;274;318;114;218;190;276	ENSP00000442058:D231V;ENSP00000437824:D274V;ENSP00000258091:D318V;ENSP00000381456:D114V;ENSP00000444379:D218V;ENSP00000438462:D190V	ENSP00000258091:D318V	D	+	2	0	CCT7	73329796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.075000	0.94004	2.157000	0.67596	0.374000	0.22700	GAT	-	superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like		0.522	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	protein_coding	OTTHUMT00000327714.2	A			73329796	+1	no_errors	NM_006429	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GTF2I	2969	genome.wustl.edu	37	7	74159108	74159108	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:74159108G>A	ENST00000324896.4	+	21	2151	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GTF2I_ENST00000353920.4_Missense_Mutation_p.G568R|GTF2I_ENST00000416070.1_Missense_Mutation_p.G547R|GTF2I_ENST00000346152.4_Missense_Mutation_p.G567R|GTF2I_ENST00000438130.2_3'UTR	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	588					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TCAAGCTCTTGGACTCACCGA	0.463																																																0			7											1.0	1.0	1.0					7																	74159108		166	328	494	73797044	SO:0001583	missense	2969			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1762G>A	7.37:g.74159108G>A	ENSP00000322542:p.Gly588Arg		73797044	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	HMMPfam_GTF2I	p.G588R	ENST00000324896.4	37	c.1762	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698154	0.68386	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000002	T	0.78966	0.4367	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.63046	0.992;0.989;0.979;0.979;0.983	D;P;P;P;D	0.65443	0.935;0.893;0.858;0.892;0.913	T	0.82345	-0.0503	10	0.87932	D	0	-23.9106	17.2923	0.87160	0.0:0.0:1.0:0.0	.	566;547;568;567;588	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	R	588;583;568;567;547	ENSP00000322542:G588R;ENSP00000322671:G568R;ENSP00000322599:G567R;ENSP00000387651:G547R	ENSP00000322542:G588R	G	+	1	0	GTF2I	73797044	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.509000	0.81698	2.339000	0.79563	0.456000	0.33151	GGA	-	HMMPfam_GTF2I		0.463	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	G	NM_032999		73797044	+1	no_errors	NM_032999	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
ROBO1	6091	genome.wustl.edu	37	3	78696803	78696803	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:78696803G>C	ENST00000464233.1	-	20	2928	c.2815C>G	c.(2815-2817)Ccg>Gcg	p.P939A	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.P900A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTAAAAGACGGGACTGAAAAA	0.343																																																0			3											246.0	238.0	240.0					3																	78696803		1830	4094	5924	78779493	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2815C>G	3.37:g.78696803G>C	ENSP00000420321:p.Pro939Ala		78779493	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.P939A	ENST00000464233.1	37	c.2815	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197037	0.79015	.	.	ENSG00000169855	ENST00000436010;ENST00000464233;ENST00000398414	T;T	0.60299	0.23;0.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.999;0.974;0.998	D;P;D	0.83275	0.996;0.642;0.955	T	0.61987	-0.6949	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	903;939;900	Q9Y6N7-3;Q9Y6N7;Q9Y6N7-4	.;ROBO1_HUMAN;.	A	900;939;943	ENSP00000406043:P900A;ENSP00000420321:P939A	.	P	-	1	0	ROBO1	78779493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.575000	0.98187	2.821000	0.97095	0.555000	0.69702	CCG	-	NULL		0.343	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	protein_coding	OTTHUMT00000352610.1	G	NM_002941		78779493	-1	no_errors	NM_002941	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TPBG	7162	genome.wustl.edu	37	6	83075392	83075392	+	Silent	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr6:83075392C>T	ENST00000369750.3	+	2	1331	c.714C>T	c.(712-714)caC>caT	p.H238H	TPBG_ENST00000535040.1_Silent_p.H238H|TPBG_ENST00000543496.1_Silent_p.H238H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	238					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCCTCAGGCACCTGGACTTAA	0.607																																																0			6											75.0	81.0	79.0					6																	83075392		2203	4300	6503	83132111	SO:0001819	synonymous_variant	7162			AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.714C>T	6.37:g.83075392C>T			83132111	A8K555	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT	p.H238	ENST00000369750.3	37	c.714	CCDS4995.1	6																																																																																			-	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1		0.607	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPBG	protein_coding	OTTHUMT00000041340.1	C			83132111	+1	no_errors	NM_006670	genbank	human	provisional	54_36p	silent	SNP	0.881	T
KIF27	55582	genome.wustl.edu	37	9	86518419	86518419	+	Silent	SNP	T	T	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr9:86518419T>G	ENST00000297814.2	-	4	1157	c.1014A>C	c.(1012-1014)gcA>gcC	p.A338A	KIF27_ENST00000413982.1_Silent_p.A338A|KIF27_ENST00000334204.2_Silent_p.A338A	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TAATGTTCCGTGCTCTGTTGG	0.433																																																0			9											108.0	106.0	107.0					9																	86518419		2203	4300	6503	85708239	SO:0001819	synonymous_variant	55582			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1014A>C	9.37:g.86518419T>G			85708239	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.A338	ENST00000297814.2	37	c.1014	CCDS6665.1	9																																																																																			-	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	T	NM_017576		85708239	-1	no_errors	NM_017576	genbank	human	provisional	54_36p	silent	SNP	0.999	G
SMCO4	56935	genome.wustl.edu	37	11	93268888	93268888	+	Intron	SNP	C	C	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:93268888C>A	ENST00000298966.2	-	1	233				SMCO4_ENST00000527149.1_Intron	NM_020179.2	NP_064564.1	Q9NRQ5	SMCO4_HUMAN	single-pass membrane protein with coiled-coil domains 4							integral component of membrane (GO:0016021)											CTTATTCAAACCTCCTGAGAG	0.448																																																0			11																																								92908536	SO:0001627	intron_variant	729466			BC031564	CCDS8292.1	11q21	2013-03-11	2013-03-11	2013-03-11	ENSG00000166002	ENSG00000166002			24810	protein-coding gene	gene with protein product		609477	"""chromosome 11 open reading frame 75"""	C11orf75		10863097	Standard	NM_020179		Approved	FN5	uc001pds.4	Q9NRQ5	OTTHUMG00000167442	ENST00000298966.2:c.152+7553G>T	11.37:g.93268888C>A			92908536		RNA	SNP	-	NULL	ENST00000298966.2	37	NULL	CCDS8292.1	11																																																																																			-	-		0.448	SMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729466	protein_coding	OTTHUMT00000394630.1	C	NM_020179		92908536	+1	pseudogene	XR_015916	genbank	human	model	54_36p	rna	SNP	0.998	A
RUNX1T1	862	genome.wustl.edu	37	8	92972688	92972688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr8:92972688G>A	ENST00000523629.1	-	12	2051	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R533*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R544*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R496*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R533R(1)|p.R544R(1)|p.R496R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517																																																3	Substitution - coding silent(3)	lung(3)	8											74.0	69.0	70.0					8																	92972688		2203	4300	6503	93041864	SO:0001587	stop_gained	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1597C>T	8.37:g.92972688G>A	ENSP00000428543:p.Arg533*		93041864	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1	p.R533*	ENST00000523629.1	37	c.1597	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926063	0.92319	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	5.86	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.668	17.7086	0.88315	0.0:0.0:0.869:0.131	.	.	.	.	X	533;506;533;496;496;496;544;506	.	ENSP00000265814:R533X	R	-	1	2	RUNX1T1	93041864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.919000	0.87513	2.777000	0.95525	0.655000	0.94253	CGA	-	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93041864	-1	no_errors	NM_175634	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
ACTR6	64431	genome.wustl.edu	37	12	100617667	100617667	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:100617667G>C	ENST00000188312.2	+	11	1930	c.1165G>C	c.(1165-1167)Gtc>Ctc	p.V389L	ACTR6_ENST00000546902.1_Missense_Mutation_p.V307L|ACTR6_ENST00000552376.1_Missense_Mutation_p.V369L|ACTR6_ENST00000551617.1_Missense_Mutation_p.V287L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	389						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGGACATAGCGTCTGTGAAGA	0.323																																																0			12											109.0	110.0	110.0					12																	100617667		2203	4300	6503	99141798	SO:0001583	missense	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1165G>C	12.37:g.100617667G>C	ENSP00000188312:p.Val389Leu		99141798	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	superfamily_Actin-like ATPase domain,HMMSmart_SM00268,HMMPfam_Actin	p.V389L	ENST00000188312.2	37	c.1165	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705290	0.15172	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.94497	-3.44;-3.44;3.16;3.16	5.95	0.281	0.15687	.	0.266996	0.38164	N	0.001795	D	0.85660	0.5748	N	0.05330	-0.07	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.73685	-0.3905	10	0.46703	T	0.11	.	11.7874	0.52049	0.8576:0.0:0.1424:0.0	.	287;369;389	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	L	389;307;369;287	ENSP00000188312:V389L;ENSP00000448669:V307L;ENSP00000447237:V369L;ENSP00000448356:V287L	ENSP00000188312:V389L	V	+	1	0	ACTR6	99141798	0.998000	0.40836	0.202000	0.23494	0.941000	0.58515	1.529000	0.35996	-0.148000	0.11234	0.655000	0.94253	GTC	-	HMMSmart_SM00268,HMMPfam_Actin,superfamily_Actin-like ATPase domain		0.323	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	protein_coding	OTTHUMT00000408159.1	G	NM_022496		99141798	+1	no_errors	NM_022496	genbank	human	validated	54_36p	missense	SNP	0.975	C
EMCN	51705	genome.wustl.edu	37	4	101342460	101342460	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:101342460T>A	ENST00000296420.4	-	8	821	c.643A>T	c.(643-645)Atg>Ttg	p.M215L	EMCN_ENST00000511970.1_Missense_Mutation_p.M202L|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	215						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTCCAGCACATTCGGTACAAA	0.353																																																0			4											94.0	91.0	92.0					4																	101342460		2203	4300	6503	101561483	SO:0001583	missense	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.643A>T	4.37:g.101342460T>A	ENSP00000296420:p.Met215Leu		101561483	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	HMMPfam_Endomucin	p.M215L	ENST00000296420.4	37	c.643	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261555	0.39995	.	.	ENSG00000164035	ENST00000296420;ENST00000511970;ENST00000502569	.	.	.	5.36	2.88	0.33553	.	0.385573	0.22592	N	0.058080	T	0.25269	0.0614	N	0.19112	0.55	0.22050	N	0.999391	B;B	0.15141	0.012;0.005	B;B	0.16722	0.016;0.011	T	0.16335	-1.0406	9	0.45353	T	0.12	-9.8579	6.449	0.21894	0.0:0.082:0.1569:0.761	.	202;215	B4E347;Q9ULC0	.;MUCEN_HUMAN	L	215;202;164	.	ENSP00000296420:M215L	M	-	1	0	EMCN	101561483	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	0.914000	0.28624	0.326000	0.23384	-0.274000	0.10170	ATG	-	HMMPfam_Endomucin		0.353	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	protein_coding	OTTHUMT00000253699.2	T	NM_016242		101561483	-1	no_errors	NM_016242	genbank	human	provisional	54_36p	missense	SNP	1.000	A
DDX54	79039	genome.wustl.edu	37	12	113603663	113603663	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr12:113603663G>T	ENST00000306014.5	-	13	1616	c.1589C>A	c.(1588-1590)tCc>tAc	p.S530Y	DDX54_ENST00000314045.7_Missense_Mutation_p.S530Y	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	530					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCTTGATGGACTCAGGCGA	0.662																																																0			12											43.0	42.0	42.0					12																	113603663		2203	4300	6503	112088046	SO:0001583	missense	79039			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1589C>A	12.37:g.113603663G>T	ENSP00000304072:p.Ser530Tyr		112088046	Q86YT8|Q9BRZ1	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DBP10CT	p.S530Y	ENST00000306014.5	37	c.1589	CCDS31907.1	12	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130013	0.56721	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.15139	2.45;2.45	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.66740	-0.5847	10	0.87932	D	0	.	17.1136	0.86682	0.0:0.0:1.0:0.0	.	530;530	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Y	530	ENSP00000323858:S530Y;ENSP00000304072:S530Y	ENSP00000304072:S530Y	S	-	2	0	DDX54	112088046	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.233000	0.95337	2.354000	0.79902	0.561000	0.74099	TCC	-	NULL		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	protein_coding	OTTHUMT00000405435.1	G	NM_024072		112088046	-1	no_errors	NM_024072	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MUSK	4593	genome.wustl.edu	37	9	113431230	113431230	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr9:113431230G>C	ENST00000374448.4	+	1	180	c.46G>C	c.(46-48)Gtt>Ctt	p.V16L	MUSK_ENST00000416899.2_Missense_Mutation_p.V16L|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000189978.5_Missense_Mutation_p.V16L	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	16					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTTACTCTGGTTGCCTTCAG	0.433																																																0			9											339.0	325.0	329.0					9																	113431230		1902	4125	6027	112471051	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.46G>C	9.37:g.113431230G>C	ENSP00000363571:p.Val16Leu		112471051	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_Fz,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.V16L	ENST00000374448.4	37	c.46	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340915	0.60963	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73047	-0.71	5.18	5.18	0.71444	.	0.367970	0.22679	N	0.056969	T	0.54191	0.1843	N	0.08118	0	0.80722	D	1	B;B	0.30236	0.004;0.274	B;B	0.31869	0.004;0.137	T	0.54463	-0.8290	10	0.31617	T	0.26	.	17.2813	0.87129	0.0:0.0:1.0:0.0	.	16;16	O15146;F5H6T2	MUSK_HUMAN;.	L	16	ENSP00000363571:V16L	ENSP00000189978:V16L	V	+	1	0	MUSK	112471051	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.930000	0.56522	2.437000	0.82529	0.557000	0.71058	GTT	-	NULL		0.433	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	protein_coding		G			112471051	+1	no_errors	NM_005592	genbank	human	validated	54_36p	missense	SNP	1.000	C
CTTNBP2	83992	genome.wustl.edu	37	7	117431498	117431498	+	Silent	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr7:117431498C>T	ENST00000160373.3	-	4	1843	c.1752G>A	c.(1750-1752)gtG>gtA	p.V584V	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	584					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGTCGAAGCCACAGTTTTGT	0.517																																																0			7											89.0	93.0	92.0					7																	117431498		2203	4300	6503	117218734	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1752G>A	7.37:g.117431498C>T			117218734	O43389|Q7LG11|Q9C0A5	Silent	SNP	HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.V584	ENST00000160373.3	37	c.1752	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	C	6.136	0.393318	0.11638	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.74	4.87	0.63330	.	.	.	.	.	T	0.60534	0.2276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59134	-0.7511	4	.	.	.	-8.7557	9.5103	0.39074	0.0:0.7883:0.0:0.2117	.	.	.	.	S	113	.	.	G	-	1	0	CTTNBP2	117218734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.459000	0.35234	1.571000	0.49722	0.563000	0.77884	GGC	-	HMMPfam_CortBP2		0.517	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	protein_coding	OTTHUMT00000059201.4	C	NM_033427		117218734	-1	no_errors	NM_033427	genbank	human	reviewed	54_36p	silent	SNP	0.901	T
BCL9L	283149	genome.wustl.edu	37	11	118773711	118773711	+	Silent	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr11:118773711G>T	ENST00000334801.3	-	5	1786	c.822C>A	c.(820-822)gcC>gcA	p.A274A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	274					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTCAAGCTTGGCCCGGGGCA	0.652																																																0			11											27.0	27.0	27.0					11																	118773711		2197	4291	6488	118278921	SO:0001819	synonymous_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.822C>A	11.37:g.118773711G>T			118278921	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	PatternScan_RIBOSOMAL_S6E	p.A274	ENST00000334801.3	37	c.822	CCDS8403.1	11																																																																																			-	NULL		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	G	NM_182557		118278921	-1	no_errors	NM_182557	genbank	human	validated	54_36p	silent	SNP	0.995	T
NDST3	9348	genome.wustl.edu	37	4	119115831	119115831	+	Intron	SNP	G	G	A	rs529917752		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:119115831G>A	ENST00000296499.5	+	7	1942				NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3						heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTGTTTGGGCGAATGTCCACT	0.552													t|||	1	0.000199681	0.0	0.0	5008	,	,		20469	0.0		0.0	False		,,,				2504	0.001															0			4																																								119335279	SO:0001627	intron_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1540-29815G>A	4.37:g.119115831G>A			119335279	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	RNA	SNP	-	NULL	ENST00000296499.5	37	NULL	CCDS3708.1	4																																																																																			-	-		0.552	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132656	protein_coding	OTTHUMT00000256517.4	G	NM_004784		119335279	-1	pseudogene	XR_039330	genbank	human	model	54_36p	rna	SNP	0.838	A
GAPDHP23	391075	genome.wustl.edu	37	1	120005215	120005215	+	IGR	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:120005215G>C								HSD3B2 (39557 upstream) : HSD3B1 (44610 downstream)																							ATGTTCTTGAGGCTGTTTTCA	0.443																																																0			1																																								119806738	SO:0001628	intergenic_variant	391075																															1.37:g.120005215G>C			119806738		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.443					LOC391075			G			119806738	-1	pseudogene	XR_016557	genbank	human	model	54_36p	rna	SNP	1.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123168449	123168449	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:123168449G>C	ENST00000264501.4	+	35	5822	c.5449G>C	c.(5449-5451)Gaa>Caa	p.E1817Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1817Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1817Q			Q2LD37	K1109_HUMAN	KIAA1109	1817					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAGGCAAAGAAATTGCAGC	0.388																																																0			4											109.0	105.0	106.0					4																	123168449		1877	4124	6001	123387899	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5449G>C	4.37:g.123168449G>C	ENSP00000264501:p.Glu1817Gln		123387899	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	PatternScan_ASP_PROTEASE,HMMPfam_FSA_C	p.E1817Q	ENST00000264501.4	37	c.5449	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.416251|4.416251	0.83449|0.83449	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|T	0.34667|0.32515	2.01;2.01;1.35|1.45	5.77|5.77	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.44285|.	U|.	0.000466|.	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.27053|0.27053	0.805|0.805	0.47737|0.47737	D|D	0.999503|0.999503	B;P|.	0.42871|.	0.221;0.792|.	B;B|.	0.37650|.	0.161;0.255|.	T|T	0.08086|0.08086	-1.0739|-1.0739	10|7	0.48119|0.44086	T|T	0.1|0.13	.|.	14.6677|14.6677	0.68921|0.68921	0.0695:0.0:0.9305:0.0|0.0695:0.0:0.9305:0.0	.|.	1816;1817|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	Q|N	1817|389	ENSP00000264501:E1817Q;ENSP00000373390:E1817Q;ENSP00000389925:E1817Q|ENSP00000394909:K389N	ENSP00000264501:E1817Q|ENSP00000394909:K389N	E|K	+|+	1|3	0|2	KIAA1109|KIAA1109	123387899|123387899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.763000|9.763000	0.98947|0.98947	1.455000|1.455000	0.47813|0.47813	0.585000|0.585000	0.79938|0.79938	GAA|AAG	-	NULL		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123387899	+1	no_errors	NM_015312	genbank	human	validated	54_36p	missense	SNP	1.000	C
CNTNAP5	129684	genome.wustl.edu	37	2	125671848	125671848	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:125671848C>T	ENST00000431078.1	+	24	4268	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1302					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1302G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGAGTGTAAACGGGAATATTT	0.408																																																1	Substitution - Missense(1)	lung(1)	2											98.0	101.0	100.0					2																	125671848		1864	4105	5969	125388318	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3904C>T	2.37:g.125671848C>T	ENSP00000399013:p.Arg1302Trp		125388318	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	PatternScan_FA58C_1,PatternScan_FIBRIN_AG_C_DOMAIN,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_2,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_EGF,HMMPfam_EGF,superfamily_Fibrinogen_a/b/g_C	p.R1302W	ENST00000431078.1	37	c.3904	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064330	0.76187	.	.	ENSG00000155052	ENST00000431078	D	0.88586	-2.4	6.14	4.26	0.50523	.	0.000000	0.45126	D	0.000396	D	0.90607	0.7055	M	0.72479	2.2	0.39442	D	0.967262	D	0.71674	0.998	P	0.50791	0.65	D	0.92279	0.5832	10	0.87932	D	0	.	13.6702	0.62420	0.4024:0.5976:0.0:0.0	.	1302	Q8WYK1	CNTP5_HUMAN	W	1302	ENSP00000399013:R1302W	ENSP00000399013:R1302W	R	+	1	2	CNTNAP5	125388318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.869000	0.27996	1.572000	0.49736	0.637000	0.83480	CGG	-	NULL		0.408	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	C			125388318	+1	no_errors	NM_130773	genbank	human	reviewed	54_36p	missense	SNP	0.980	T
FAT4	79633	genome.wustl.edu	37	4	126370779	126370779	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr4:126370779C>G	ENST00000394329.3	+	9	8621	c.8608C>G	c.(8608-8610)Cca>Gca	p.P2870A	FAT4_ENST00000335110.5_Missense_Mutation_p.P1168A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2870	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACAATGCTCCAAGATTTAG	0.408																																																0			4											87.0	84.0	85.0					4																	126370779		2203	4299	6502	126590229	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8608C>G	4.37:g.126370779C>G	ENSP00000377862:p.Pro2870Ala		126590229	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF	p.P2870A	ENST00000394329.3	37	c.8608	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804543	0.50315	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.88046	-2.33;-2.33	5.51	5.51	0.81932	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34268	U	0.004116	D	0.96172	0.8752	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	D	0.97106	0.9801	10	0.87932	D	0	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	1168;2870;2870	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	2870;1168	ENSP00000377862:P2870A;ENSP00000335169:P1168A	ENSP00000335169:P1168A	P	+	1	0	FAT4	126590229	1.000000	0.71417	0.942000	0.38095	0.215000	0.24574	7.621000	0.83083	2.746000	0.94184	0.655000	0.94253	CCA	-	HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126590229	+1	no_errors	NM_024582	genbank	human	validated	54_36p	missense	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134851754	134851754	+	Missense_Mutation	SNP	C	C	T	rs56396912		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:134851754C>T	ENST00000398015.3	+	5	1530	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	387	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs56396912). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.T387M(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGGGCCTGACGGAGTGCCGC	0.612																																																4	Substitution - Missense(4)	ovary(4)	3											41.0	47.0	45.0					3																	134851754		2199	4295	6494	136334444	SO:0001583	missense	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1160C>T	3.37:g.134851754C>T	ENSP00000381097:p.Thr387Met		136334444	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1	p.T387M	ENST00000398015.3	37	c.1160	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835462	0.71373	.	.	ENSG00000154928	ENST00000398015	T	0.60797	0.16	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058337	0.64402	D	0.000003	T	0.77857	0.4193	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.80405	-0.1396	10	0.72032	D	0.01	.	19.4235	0.94732	0.0:1.0:0.0:0.0	rs56396912	387	P54762	EPHB1_HUMAN	M	387	ENSP00000381097:T387M	ENSP00000381097:T387M	T	+	2	0	EPHB1	136334444	1.000000	0.71417	0.962000	0.40283	0.657000	0.38888	5.999000	0.70665	2.590000	0.87494	0.655000	0.94253	ACG	-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.612	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	protein_coding	OTTHUMT00000357671.1	C	NM_004441		136334444	+1	no_errors	NM_004441	genbank	human	reviewed	54_36p	missense	SNP	0.996	T
OTUD7B	56957	genome.wustl.edu	37	1	149936182	149936182	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:149936182G>A	ENST00000369135.4	-	6	991	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	233	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CACCTCCAGCGCCTTTTCAAC	0.532																																																0			1											107.0	119.0	115.0					1																	149936182		2115	4246	6361	148202806	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.697C>T	1.37:g.149936182G>A	ENSP00000358131:p.Arg233Cys		148202806	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	superfamily_UBA-like,HMMPfam_OTU,HMMSmart_SM00259	p.R233C	ENST00000369135.4	37	c.697	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004012	0.74932	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.54675	0.56;0.71	4.87	4.87	0.63330	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73448	-0.3979	9	.	.	.	-30.4617	12.2218	0.54437	0.0:0.0:0.8297:0.1703	.	233;233	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	C	233	ENSP00000358131:R233C;ENSP00000408231:R233C	.	R	-	1	0	OTUD7B	148202806	0.912000	0.30974	1.000000	0.80357	0.957000	0.61999	1.381000	0.34362	2.696000	0.92011	0.655000	0.94253	CGC	-	HMMPfam_OTU		0.532	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	protein_coding	OTTHUMT00000034146.3	G	NM_020205		148202806	-1	no_errors	NM_020205	genbank	human	validated	54_36p	missense	SNP	0.996	A
PLCH1	23007	genome.wustl.edu	37	3	155203433	155203433	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr3:155203433T>A	ENST00000340059.7	-	22	2709	c.2710A>T	c.(2710-2712)Aat>Tat	p.N904Y	PLCH1_ENST00000334686.6_Missense_Mutation_p.N866Y|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000447496.2_Missense_Mutation_p.N904Y|PLCH1_ENST00000494598.1_Missense_Mutation_p.N884Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.N866Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.N866Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	904					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAATGGGAATTGTTTTCTGAA	0.463																																																0			3											85.0	83.0	84.0					3																	155203433		2203	4300	6503	156686127	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2710A>T	3.37:g.155203433T>A	ENSP00000345988:p.Asn904Tyr		156686127	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.N866Y	ENST00000340059.7	37	c.2596	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510975	0.44660	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.32515	1.95;1.91;1.45;1.87;1.91;1.91	5.88	3.5	0.40072	.	1.124360	0.06374	N	0.714076	T	0.44307	0.1287	L	0.53249	1.67	0.09310	N	1	P;P;P	0.45715	0.659;0.865;0.855	P;P;B	0.52267	0.694;0.498;0.373	T	0.29640	-1.0005	10	0.66056	D	0.02	.	9.9706	0.41752	0.0:0.2415:0.0:0.7585	.	866;904;904	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Y	884;866;904;904;866;866	ENSP00000419100:N884Y;ENSP00000417502:N866Y;ENSP00000402759:N904Y;ENSP00000345988:N904Y;ENSP00000335469:N866Y;ENSP00000412977:N866Y	ENSP00000335469:N866Y	N	-	1	0	PLCH1	156686127	0.015000	0.18098	0.004000	0.12327	0.591000	0.36615	1.493000	0.35605	1.066000	0.40716	0.533000	0.62120	AAT	-	NULL		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	T	NM_014996		156686127	-1	no_errors	NM_014996	genbank	human	validated	54_36p	missense	SNP	0.003	A
F5	2153	genome.wustl.edu	37	1	169509691	169509691	+	Missense_Mutation	SNP	T	T	C	rs200308026		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:169509691T>C	ENST00000367797.3	-	13	4838	c.4637A>G	c.(4636-4638)tAt>tGt	p.Y1546C	F5_ENST00000367796.3_Missense_Mutation_p.Y1551C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1546	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGGTCATCATAGGGCACATA	0.443													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19396	0.0		0.0	False		,,,				2504	0.0															0			1											103.0	93.0	96.0					1																	169509691		2203	4300	6503	167776315	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4637A>G	1.37:g.169509691T>C	ENSP00000356771:p.Tyr1546Cys		167776315	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2	p.Y1546C	ENST00000367797.3	37	c.4637	CCDS1281.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	13.48	2.250188	0.39797	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.51071	0.72;0.72	5.93	4.79	0.61399	.	0.409709	0.27725	N	0.018102	T	0.60650	0.2285	M	0.85710	2.77	0.39434	D	0.967124	D	0.89917	1.0	D	0.71870	0.975	T	0.70753	-0.4786	9	0.87932	D	0	-15.1147	11.0727	0.48012	0.26:0.0:0.0:0.74	.	1546	P12259	FA5_HUMAN	C	1546;1551	ENSP00000356771:Y1546C;ENSP00000356770:Y1551C	ENSP00000356770:Y1551C	Y	-	2	0	F5	167776315	1.000000	0.71417	0.107000	0.21349	0.341000	0.28922	2.569000	0.45973	1.039000	0.40074	0.482000	0.46254	TAT	-	NULL		0.443	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	T	NM_000130		167776315	-1	no_errors	NM_000130	genbank	human	reviewed	54_36p	missense	SNP	0.991	C
PDE11A	50940	genome.wustl.edu	37	2	178762866	178762866	+	Silent	SNP	G	G	T			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:178762866G>T	ENST00000286063.6	-	4	1538	c.1221C>A	c.(1219-1221)gtC>gtA	p.V407V	PDE11A_ENST00000449286.2_Silent_p.V49V|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.V49V|PDE11A_ENST00000358450.4_Silent_p.V157V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	407	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTATTTTCTTGACAATTTTCT	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0			2											127.0	120.0	123.0					2																	178762866		2203	4300	6503	178471112	SO:0001819	synonymous_variant	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1221C>A	2.37:g.178762866G>T			178471112	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.V407	ENST00000286063.6	37	c.1221	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293770	0.23564	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.99	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2377	0.26079	0.2018:0.2403:0.5579:0.0	.	.	.	.	X	46	.	.	S	-	2	0	PDE11A	178471112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.116000	0.31221	0.824000	0.34613	0.655000	0.94253	TCA	-	HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like		0.378	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	protein_coding	OTTHUMT00000334313.2	G			178471112	-1	no_errors	NM_016953	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
PTPRN	5798	genome.wustl.edu	37	2	220164814	220164814	+	Silent	SNP	G	G	A	rs151307858		TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr2:220164814G>A	ENST00000295718.2	-	9	1569	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	PTPRN_ENST00000423636.2_Silent_p.V353V|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.V443V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	443					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCTCTAGCAGGACAGGTGTCA	0.627																																																0			2						G	,,	1,4405	2.1+/-5.4	0,1,2202	63.0	72.0	69.0		1329,1059,1329	3.5	0.9	2	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	443/951,353/890,443/980	220164814	1,13005	2203	4300	6503	219873058	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1329C>T	2.37:g.220164814G>A			219873058	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.V443	ENST00000295718.2	37	c.1329	CCDS2440.1	2																																																																																			-	NULL		0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	G			219873058	-1	no_errors	NM_002846	genbank	human	reviewed	54_36p	silent	SNP	0.966	A
RYR2	6262	genome.wustl.edu	37	1	237659983	237659983	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr1:237659983G>C	ENST00000366574.2	+	20	2451	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	RYR2_ENST00000360064.6_Missense_Mutation_p.E710Q|RYR2_ENST00000542537.1_Missense_Mutation_p.E696Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	712	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGGCGAAGAGTGGGGTGG	0.522																																																0			1											134.0	141.0	138.0					1																	237659983		1956	4157	6113	235726606	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2134G>C	1.37:g.237659983G>C	ENSP00000355533:p.Glu712Gln		235726606	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.E712Q	ENST00000366574.2	37	c.2134	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.128388	0.94473	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69175	-0.38;-0.38;-0.38	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.088350	0.46145	D	0.000313	T	0.55752	0.1940	N	0.14661	0.345	0.80722	D	1	P	0.48911	0.917	B	0.41894	0.369	T	0.61869	-0.6974	10	0.56958	D	0.05	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	712	Q92736	RYR2_HUMAN	Q	712;710;696	ENSP00000355533:E712Q;ENSP00000353174:E710Q;ENSP00000443798:E696Q	ENSP00000353174:E710Q	E	+	1	0	RYR2	235726606	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GAG	-	HMMPfam_SPRY,HMMSmart_SM00449		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035		235726606	+1	no_errors	NM_001035	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FBN3	84467	genome.wustl.edu	37	19	8201138	8201140	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-04-1655-01A-01W-0633-09	TCGA-04-1655-10A-01W-0633-09	GGG	GGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	bc3a8b65-0d8a-46e6-9d8c-b8aeffbf7de6	cb7913f1-11a0-4921-89c1-96048537cf18	g.chr19:8201138_8201140delGGG	ENST00000600128.1	-	12	1813_1815	c.1399_1401delCCC	c.(1399-1401)cccdel	p.P467del	FBN3_ENST00000601739.1_In_Frame_Del_p.P467del|FBN3_ENST00000270509.2_In_Frame_Del_p.P467del			Q75N90	FBN3_HUMAN	fibrillin 3	467	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGGTGCCGGGGATGTTGACG	0.635																																																0			19																																								8107140	SO:0001651	inframe_deletion	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1399_1401delCCC	19.37:g.8201138_8201140delGGG	ENSP00000470498:p.Pro467del		8107138	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	In_Frame_Del	DEL	HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain	p.P467in_frame_del	ENST00000600128.1	37	c.1401_1399	CCDS12196.1	19																																																																																			(deletion:cds_exon[8107074,8107193])	PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL		0.635	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	GGG	NM_032447		8107140	-1	no_errors	NM_032447	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.918:0.987:0.991	-
