#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-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								8431	SO:0001628	intergenic_variant	4514																															Unknown.37:g.0T>C			8431		Missense_Mutation	SNP	HMMPfam_ATP-synt_8	p.L22P		37	c.65		MT																																																																																			-	HMMPfam_ATP-synt_8	0	0					MT-CO3			T			8431	+1	no_errors	ENST00000361851	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11049	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0T>C			11049		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.S97P		37	c.289		MT																																																																																			-	HMMPfam_Oxidored_q5_N	0	0					MT-ND4			T			11049	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	C
B4GALNT3	283358	genome.wustl.edu	37	12	662909	662909	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:662909A>T	ENST00000266383.5	+	14	1833	c.1820A>T	c.(1819-1821)gAa>gTa	p.E607V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	607					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			gagggagaggaagagggggaa	0.612																																																0			12											66.0	55.0	59.0					12																	662909		2202	4300	6502	533170	SO:0001583	missense	283358			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1820A>T	12.37:g.662909A>T	ENSP00000266383:p.Glu607Val		533170	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	HMMSmart_SM00758,HMMPfam_PA14,superfamily_Nucleotide-diphospho-sugar transferases	p.E607V	ENST00000266383.5	37	c.1820	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455782	0.43634	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.36520	3.3;1.25	5.63	1.79	0.24919	.	0.474540	0.21011	N	0.081698	T	0.25865	0.0630	L	0.48642	1.525	0.18873	N	0.999981	B;B	0.26195	0.144;0.03	B;B	0.20955	0.032;0.01	T	0.23013	-1.0200	10	0.72032	D	0.01	-5.8951	3.9282	0.09273	0.5726:0.2431:0.0672:0.1171	.	510;607	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	V	607;510	ENSP00000266383:E607V;ENSP00000322953:E510V	ENSP00000266383:E607V	E	+	2	0	B4GALNT3	533170	0.994000	0.37717	0.233000	0.24025	0.893000	0.52053	2.228000	0.42981	0.383000	0.24910	0.459000	0.35465	GAA	-	NULL		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	protein_coding	OTTHUMT00000251406.2	A	NM_173593		533170	+1	no_errors	NM_173593	genbank	human	validated	54_36p	missense	SNP	0.118	T
TP53	7157	genome.wustl.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000359597.4_Missense_Mutation_p.G244S|TP53_ENST00000420246.2_Missense_Mutation_p.G244S|TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000574684.1_5'Flank	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		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"""	125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	17											147.0	111.0	123.0					17																	7577551		2203	4300	6503	7518276	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.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser		7518276	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.G244S	ENST00000269305.4	37	c.730	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518276	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NUP210	23225	genome.wustl.edu	37	3	13407548	13407548	+	Silent	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr3:13407548T>G	ENST00000254508.5	-	14	1912	c.1830A>C	c.(1828-1830)gtA>gtC	p.V610V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	610					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCTCGGCCTTTACCCGGATGC	0.557																																																0			3											81.0	76.0	78.0					3																	13407548		2203	4300	6503	13382548	SO:0001819	synonymous_variant	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1830A>C	3.37:g.13407548T>G			13382548	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	superfamily_Invasin/intimin cell-adhesion fragments,HMMPfam_Big_2,HMMSmart_SM00635	p.V610	ENST00000254508.5	37	c.1830	CCDS33704.1	3																																																																																			-	NULL		0.557	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	protein_coding	OTTHUMT00000340085.1	T	NM_024923		13382548	-1	no_errors	NM_024923	genbank	human	reviewed	54_36p	silent	SNP	0.850	G
TRIO	7204	genome.wustl.edu	37	5	14369481	14369481	+	Splice_Site	SNP	A	A	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:14369481A>T	ENST00000344204.4	+	18	3090		c.e18-1		TRIO_ENST00000509967.2_Splice_Site|TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCTGCTCACAGGTCTGCAGC	0.572																																																0			5											61.0	66.0	65.0					5																	14369481		2203	4300	6503	14422481	SO:0001630	splice_region_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3067-1A>T	5.37:g.14369481A>T			14422481	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	-	e18-2	ENST00000344204.4	37	c.3067-2	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450725	0.84101	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIO	14422481	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	.	-	-		0.572	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	A	NM_007118	Intron	14422481	+1	no_errors	NM_007118	genbank	human	validated	54_36p	splice_site	SNP	1.000	T
MAGEB17	645864	genome.wustl.edu	37	X	16189308	16189308	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrX:16189308G>A	ENST00000400004.2	+	2	1155	c.803G>A	c.(802-804)cGc>cAc	p.R268H	MAGEB17_ENST00000400003.1_Missense_Mutation_p.R268H|RP11-431J24.2_ENST00000435789.1_RNA|MAGEB17_ENST00000329538.5_Missense_Mutation_p.R268H	NM_001277307.1	NP_001264236.1	A8MXT2	MAGBH_HUMAN	melanoma antigen family B, 17	268	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.																GATCCTCCACGCTACGAGTTC	0.562																																																0			X																																								16099229	SO:0001583	missense	645864				CCDS59524.1	Xp22.2	2010-05-26	2005-11-07		ENSG00000182798	ENSG00000182798			17418	protein-coding gene	gene with protein product		300763	"""melanoma antigen family B, 17 (pseudogene)"""			11454705	Standard	NM_001277307		Approved		uc031tgu.1	A8MXT2	OTTHUMG00000021188	ENST00000400004.2:c.803G>A	X.37:g.16189308G>A	ENSP00000382884:p.Arg268His		16099229	A6NE98	Missense_Mutation	SNP	HMMPfam_MAGE	p.R389H	ENST00000400004.2	37	c.1166	CCDS59524.1	X	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894242	0.33442	.	.	ENSG00000182798	ENST00000400004;ENST00000400003;ENST00000329538	T;T;T	0.04917	3.53;3.53;3.53	2.56	0.569	0.17340	.	0.478331	0.19431	N	0.114442	T	0.07234	0.0183	L	0.60067	1.865	0.09310	N	1	.	.	.	.	.	.	T	0.27806	-1.0063	8	0.25106	T	0.35	.	2.4407	0.04493	0.1817:0.0:0.5251:0.2932	.	.	.	.	H	268	ENSP00000382884:R268H;ENSP00000382883:R268H;ENSP00000328274:R268H	ENSP00000328274:R268H	R	+	2	0	MAGEB17	16099229	0.001000	0.12720	0.001000	0.08648	0.063000	0.16089	1.020000	0.30027	0.029000	0.15352	0.513000	0.50165	CGC	-	HMMPfam_MAGE		0.562	MAGEB17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC645864	protein_coding	OTTHUMT00000251018.2	G	XM_066701		16099229	+1	no_errors	XM_001130425	genbank	human	model	54_36p	missense	SNP	0.039	A
SPEN	23013	genome.wustl.edu	37	1	16262483	16262483	+	Missense_Mutation	SNP	G	G	T	rs369155141		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:16262483G>T	ENST00000375759.3	+	11	9952	c.9748G>T	c.(9748-9750)Gtc>Ttc	p.V3250F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3250	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccctgcccccgtccctgtccc	0.662																																																0			1											15.0	16.0	16.0					1																	16262483		2200	4295	6495	16135070	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9748G>T	1.37:g.16262483G>T	ENSP00000364912:p.Val3250Phe		16135070	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SPOC-like,HMMPfam_SPOC	p.V3250F	ENST00000375759.3	37	c.9748	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.013026	0.00422	.	.	ENSG00000065526	ENST00000375759	T	0.08634	3.07	0.225	0.225	0.15325	.	.	.	.	.	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	P	0.36944	0.574	B	0.37144	0.242	T	0.40232	-0.9574	8	0.56958	D	0.05	.	.	.	.	.	3250	Q96T58	MINT_HUMAN	F	3250	ENSP00000364912:V3250F	ENSP00000364912:V3250F	V	+	1	0	SPEN	16135070	.	.	0.004000	0.12327	0.007000	0.05969	.	.	0.300000	0.22699	0.305000	0.20034	GTC	-	NULL		0.662	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16135070	+1	no_errors	NM_015001	genbank	human	reviewed	54_36p	missense	SNP	0.050	T
PLCL2	23228	genome.wustl.edu	37	3	17052695	17052695	+	Silent	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr3:17052695T>G	ENST00000418129.2	+	2	1944	c.1479T>G	c.(1477-1479)tcT>tcG	p.S493S	PLCL2_ENST00000432376.1_Silent_p.S493S|PLCL2_ENST00000396755.2_Silent_p.S493S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	619	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAGAACTGTCTGAACTGGTCA	0.423																																																0			3											81.0	84.0	83.0					3																	17052695		2203	4300	6503	17027699	SO:0001819	synonymous_variant	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1479T>G	3.37:g.17052695T>G			17027699	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,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.S493	ENST00000418129.2	37	c.1479	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.689103	0.00738	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49163	-0.8968	4	.	.	.	.	4.2462	0.10672	0.2044:0.4173:0.2093:0.169	.	.	.	.	R	237	.	.	L	+	2	0	PLCL2	17027699	0.000000	0.05858	0.014000	0.15608	0.314000	0.28054	-4.691000	0.00198	-3.013000	0.00272	-0.256000	0.11100	CTG	-	superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	protein_coding	OTTHUMT00000340250.3	T			17027699	+1	no_errors	NM_015184	genbank	human	validated	54_36p	silent	SNP	0.105	G
ZNF645	158506	genome.wustl.edu	37	X	22291314	22291314	+	Missense_Mutation	SNP	G	G	C	rs571107659		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrX:22291314G>C	ENST00000323684.1	+	1	250	c.206G>C	c.(205-207)cGa>cCa	p.R69P		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383																																																0			X											70.0	65.0	67.0					X																	22291314		2203	4300	6503	22201235	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.206G>C	X.37:g.22291314G>C	ENSP00000323348:p.Arg69Pro		22201235	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_ZnF_C2H2	p.R69P	ENST00000323684.1	37	c.206	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973732	0.53720	.	.	ENSG00000175809	ENST00000323684	T	0.59772	0.24	3.23	0.391	0.16282	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	U	0.000001	T	0.47488	0.1448	M	0.72894	2.215	0.37174	D	0.903171	P	0.36125	0.538	B	0.32342	0.144	T	0.47086	-0.9144	10	0.87932	D	0	.	4.5768	0.12238	0.2382:0.1823:0.5795:0.0	.	69	Q8N7E2	ZN645_HUMAN	P	69	ENSP00000323348:R69P	ENSP00000323348:R69P	R	+	2	0	ZNF645	22201235	0.111000	0.22076	0.002000	0.10522	0.374000	0.29953	1.423000	0.34837	-0.026000	0.13895	0.436000	0.28706	CGA	-	superfamily_SSF57850,HMMSmart_RING		0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	protein_coding	OTTHUMT00000056037.1	G	NM_152577		22201235	+1	no_errors	NM_152577	genbank	human	provisional	54_36p	missense	SNP	0.998	C
C2CD5	9847	genome.wustl.edu	37	12	22635666	22635666	+	Nonsense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:22635666A>C	ENST00000333957.4	-	14	1817	c.1562T>G	c.(1561-1563)tTa>tGa	p.L521*	C2CD5_ENST00000536386.1_Nonsense_Mutation_p.L523*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.L336*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.L512*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.L521*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.L521*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.L534*	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	521					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTCTTTTTTAAGCGACATAA	0.333																																																0			12											124.0	121.0	122.0					12																	22635666		2202	4300	6502	22526933	SO:0001587	stop_gained	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1562T>G	12.37:g.22635666A>C	ENSP00000334229:p.Leu521*		22526933	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Nonsense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.L521*	ENST00000333957.4	37	c.1562	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	A	38	6.740077	0.97805	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.	.	.	5.59	4.43	0.53597	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-13.9512	11.9526	0.52964	0.8697:0.0:0.0:0.1302	.	.	.	.	X	521;521;523;512;521;534;336	.	ENSP00000334229:L521X	L	-	2	0	KIAA0528	22526933	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.443000	0.73447	0.924000	0.37069	-0.341000	0.08007	TTA	-	NULL		0.333	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0528	protein_coding	OTTHUMT00000402257.1	A	NM_014802		22526933	-1	no_errors	NM_014802	genbank	human	predicted	54_36p	nonsense	SNP	0.988	C
CST9L	128821	genome.wustl.edu	37	20	23548889	23548889	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr20:23548889C>A	ENST00000376979.3	-	1	497	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	67						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGTCTGTAGGCATAGTAGTCC	0.522																																																0			20											174.0	134.0	148.0					20																	23548889		2203	4300	6503	23496889	SO:0001583	missense	128821				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.199G>T	20.37:g.23548889C>A	ENSP00000366178:p.Ala67Ser		23496889	B2R5A1	Missense_Mutation	SNP	superfamily_Cystatin/monellin,HMMPfam_Cystatin	p.A67S	ENST00000376979.3	37	c.199	CCDS13157.1	20	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499661	0.44455	.	.	ENSG00000101435	ENST00000376979	T	0.25085	1.82	1.75	1.75	0.24633	Proteinase inhibitor I25, cystatin (2);	0.000000	0.32231	N	0.006386	T	0.41119	0.1145	M	0.71871	2.18	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.12578	-1.0542	10	0.22706	T	0.39	.	6.9689	0.24639	0.0:1.0:0.0:0.0	.	67	Q9H4G1	CST9L_HUMAN	S	67	ENSP00000366178:A67S	ENSP00000366178:A67S	A	-	1	0	CST9L	23496889	0.932000	0.31603	0.393000	0.26258	0.057000	0.15508	2.330000	0.43885	1.267000	0.44247	0.313000	0.20887	GCC	-	superfamily_Cystatin/monellin,HMMPfam_Cystatin		0.522	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST9L	protein_coding	OTTHUMT00000078338.1	C	NM_080610		23496889	-1	no_errors	NM_080610	genbank	human	reviewed	54_36p	missense	SNP	0.243	A
NCOA1	8648	genome.wustl.edu	37	2	24933862	24933862	+	Silent	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:24933862G>A	ENST00000406961.1	+	14	3133	c.2481G>A	c.(2479-2481)ttG>ttA	p.L827L	NCOA1_ENST00000538539.1_Silent_p.L827L|NCOA1_ENST00000288599.5_Silent_p.L827L|NCOA1_ENST00000405141.1_Silent_p.L827L|NCOA1_ENST00000348332.3_Silent_p.L827L|NCOA1_ENST00000395856.3_Silent_p.L827L|NCOA1_ENST00000407230.1_Silent_p.L676L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	827	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACAGTTGCCAGGCTTAT	0.483			T	PAX3	alveolar rhadomyosarcoma																																		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0			2											112.0	99.0	103.0					2																	24933862		2203	4300	6503	24787366	SO:0001819	synonymous_variant	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2481G>A	2.37:g.24933862G>A			24787366	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518	p.L827	ENST00000406961.1	37	c.2481	CCDS1712.1	2																																																																																			-	NULL		0.483	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	protein_coding	OTTHUMT00000246852.3	G	NM_147223		24787366	+1	no_errors	NM_003743	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
NEK10	152110	genome.wustl.edu	37	3	27333074	27333074	+	Silent	SNP	A	A	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr3:27333074A>G	ENST00000429845.2	-	18	1739	c.1377T>C	c.(1375-1377)ctT>ctC	p.L459L	NEK10_ENST00000341435.5_Silent_p.L459L|NEK10_ENST00000357467.2_5'Flank			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	459					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTGGGGAAAAGTCTACAGA	0.363																																																0			3											74.0	63.0	67.0					3																	27333074		1568	3582	5150	27308078	SO:0001819	synonymous_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1377T>C	3.37:g.27333074A>G			27308078	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	superfamily_ARM repeat,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.L459	ENST00000429845.2	37	c.1377		3																																																																																			-	superfamily_ARM repeat		0.363	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	protein_coding	OTTHUMT00000438156.1	A	NM_152534		27308078	-1	no_errors	ENST00000341435	ensembl	human	known	54_36p	silent	SNP	1.000	G
KRTCAP3	200634	genome.wustl.edu	37	2	27665751	27665751	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:27665751C>G	ENST00000543753.1	+	3	303	c.256C>G	c.(256-258)Ctt>Gtt	p.L86V	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L86V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L68V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	86						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					GTCCAGGAACCTTCTTCGCCC	0.602																																																0			2											41.0	46.0	45.0					2																	27665751		2203	4300	6503	27519255	SO:0001583	missense	200634			AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.256C>G	2.37:g.27665751C>G	ENSP00000442400:p.Leu86Val		27519255	B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	NULL	p.L86V	ENST00000543753.1	37	c.256	CCDS1754.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409884	0.83340	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.51071	0.72;0.72;0.72	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.64404	1.975	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	T	0.68895	-0.5288	10	0.72032	D	0.01	-26.6732	17.5372	0.87835	0.0:1.0:0.0:0.0	.	86	Q53RY4	KCP3_HUMAN	V	86;86;68	ENSP00000442400:L86V;ENSP00000288873:L86V;ENSP00000384689:L68V	ENSP00000288873:L86V	L	+	1	0	KRTCAP3	27519255	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	4.939000	0.63526	2.727000	0.93392	0.561000	0.74099	CTT	-	NULL		0.602	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTCAP3	protein_coding	OTTHUMT00000215025.1	C	NM_173853		27519255	+1	no_errors	NM_173853	genbank	human	provisional	54_36p	missense	SNP	0.999	G
CHRM5	1133	genome.wustl.edu	37	15	34355068	34355068	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr15:34355068G>C	ENST00000383263.5	+	3	820	c.150G>C	c.(148-150)ttG>ttC	p.L50F	CHRM5_ENST00000557872.1_Missense_Mutation_p.L50F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	50					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCAATGTCTTGGTCATGATCT	0.473																																																0			15											204.0	165.0	178.0					15																	34355068		2201	4298	6499	32142360	SO:0001583	missense	1133				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.150G>C	15.37:g.34355068G>C	ENSP00000372750:p.Leu50Phe		32142360	Q96RG7	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L50F	ENST00000383263.5	37	c.150	CCDS10031.1	15	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324405	0.41197	.	.	ENSG00000184984	ENST00000383263	T	0.78481	-1.18	5.64	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.073323	0.53938	N	0.000055	T	0.75613	0.3873	M	0.73372	2.23	0.53688	D	0.999979	B	0.29909	0.261	B	0.41813	0.367	T	0.70941	-0.4735	10	0.66056	D	0.02	-8.1667	0.446	0.00493	0.2312:0.1329:0.317:0.319	.	50	P08912	ACM5_HUMAN	F	50	ENSP00000372750:L50F	ENSP00000372750:L50F	L	+	3	2	CHRM5	32142360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.724000	0.25954	0.318000	0.23185	0.650000	0.86243	TTG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.473	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	protein_coding	OTTHUMT00000251521.2	G			32142360	+1	no_errors	NM_012125	genbank	human	validated	54_36p	missense	SNP	0.990	C
C11orf74	119710	genome.wustl.edu	37	11	36631701	36631701	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr11:36631701A>C	ENST00000334307.5	+	2	163	c.48A>C	c.(46-48)ttA>ttC	p.L16F	C11orf74_ENST00000347206.4_Missense_Mutation_p.L16F|C11orf74_ENST00000446510.2_Missense_Mutation_p.L16F|C11orf74_ENST00000534635.1_Missense_Mutation_p.L16F	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	16										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAGATCAATTAATCAAAGACG	0.358																																																0			11											101.0	103.0	103.0					11																	36631701		2202	4298	6500	36588277	SO:0001583	missense	119710			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.48A>C	11.37:g.36631701A>C	ENSP00000334848:p.Leu16Phe		36588277	D3DR18|Q96DD6	Missense_Mutation	SNP	NULL	p.L16F	ENST00000334307.5	37	c.48	CCDS7904.1	11	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998312	0.35226	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000530697;ENST00000527108;ENST00000532470	.	.	.	6.17	3.85	0.44370	.	0.797524	0.11236	N	0.585081	T	0.56187	0.1968	M	0.74881	2.28	0.23802	N	0.996804	D;D	0.56746	0.977;0.977	P;P	0.56648	0.803;0.803	T	0.43861	-0.9365	9	0.56958	D	0.05	-0.1516	7.6225	0.28193	0.7887:0.1407:0.0706:0.0	.	16;16	Q86VG3;Q86VG3-2	CK074_HUMAN;.	F	16	.	ENSP00000334848:L16F	L	+	3	2	C11orf74	36588277	0.936000	0.31750	0.120000	0.21714	0.226000	0.24999	1.587000	0.36622	0.552000	0.29026	0.533000	0.62120	TTA	-	NULL		0.358	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf74	protein_coding	OTTHUMT00000389567.1	A	NM_138787		36588277	+1	no_errors	NM_138787	genbank	human	predicted	54_36p	missense	SNP	0.717	C
ANK1	286	genome.wustl.edu	37	8	41547779	41547779	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr8:41547779C>T	ENST00000347528.4	-	33	4153	c.4070G>A	c.(4069-4071)tGc>tAc	p.C1357Y	ANK1_ENST00000265709.8_Missense_Mutation_p.C1398Y|ANK1_ENST00000396942.1_Missense_Mutation_p.C1357Y|ANK1_ENST00000396945.1_Missense_Mutation_p.C1357Y|ANK1_ENST00000289734.7_Missense_Mutation_p.C1357Y|ANK1_ENST00000352337.4_Missense_Mutation_p.C1357Y|ANK1_ENST00000379758.2_Missense_Mutation_p.C1357Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1357	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTCAGGTGGCAGAGAATGTG	0.607																																																0			8											129.0	106.0	114.0					8																	41547779		2203	4300	6503	41666936	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4070G>A	8.37:g.41547779C>T	ENSP00000339620:p.Cys1357Tyr		41666936	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death	p.C1357Y	ENST00000347528.4	37	c.4070	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631753	0.87660	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66;1.66	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.85542	2.76	0.80722	D	1	D;D;B;B;D;D	0.89917	1.0;1.0;0.009;0.043;1.0;0.987	D;D;B;B;D;P	0.97110	1.0;0.999;0.019;0.018;1.0;0.658	T	0.67825	-0.5570	10	0.87932	D	0	.	17.6336	0.88116	0.0:1.0:0.0:0.0	.	1398;1357;1357;1357;1357;673	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Y	1357;1357;1357;1357;1357;1357;1398;1357	ENSP00000339620:C1357Y;ENSP00000289734:C1357Y;ENSP00000369082:C1357Y;ENSP00000380149:C1357Y;ENSP00000380147:C1357Y;ENSP00000309131:C1357Y;ENSP00000265709:C1398Y	ENSP00000265709:C1398Y	C	-	2	0	ANK1	41666936	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.538000	0.82048	2.628000	0.89032	0.563000	0.77884	TGC	-	NULL		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	protein_coding	OTTHUMT00000317297.1	C	NM_020475		41666936	-1	no_errors	NM_020476	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MRPL10	124995	genome.wustl.edu	37	17	45905922	45905922	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:45905922G>C	ENST00000351111.2	-	2	172	c.167C>G	c.(166-168)cCg>cGg	p.P56R	MRPL10_ENST00000290208.7_Missense_Mutation_p.P66R|MRPL10_ENST00000414011.1_Missense_Mutation_p.P66R	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	56					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGCTGGTTTCGGGGGGATATA	0.577																																																0			17											53.0	52.0	52.0					17																	45905922		2203	4300	6503	43260921	SO:0001583	missense	124995			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.167C>G	17.37:g.45905922G>C	ENSP00000324100:p.Pro56Arg		43260921	A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	NULL	p.P56R	ENST00000351111.2	37	c.167	CCDS11516.1	17	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601263	0.66445	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.54071	0.59;2.5;2.5	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.79475	2.455	0.80722	D	1	P;P	0.50819	0.939;0.929	P;P	0.46543	0.509;0.52	T	0.67852	-0.5563	10	0.52906	T	0.07	-9.192	18.0671	0.89394	0.0:0.0:1.0:0.0	.	56;66	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	R	56;66;66	ENSP00000324100:P56R;ENSP00000290208:P66R;ENSP00000395870:P66R	ENSP00000290208:P66R	P	-	2	0	MRPL10	43260921	1.000000	0.71417	0.940000	0.37924	0.324000	0.28378	8.956000	0.93066	2.572000	0.86782	0.655000	0.94253	CCG	-	NULL		0.577	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	protein_coding	OTTHUMT00000343764.1	G	NM_145255		43260921	-1	no_errors	NM_145255	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CD40	958	genome.wustl.edu	37	20	44756974	44756974	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr20:44756974G>T	ENST00000372285.3	+	8	724	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G197V	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	218					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				tttAGAAAAGGTGGCCAAGAA	0.498									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			20											36.0	38.0	37.0					20																	44756974		2203	4300	6503	44190381	SO:0001583	missense	958	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.652G>T	20.37:g.44756974G>T	ENSP00000361359:p.Val218Leu	926	44190381	E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2	p.V218L	ENST00000372285.3	37	c.652	CCDS13393.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.768|3.768	-0.048317|-0.048317	0.07407|0.07407	.|.	.|.	ENSG00000101017|ENSG00000101017	ENST00000372276|ENST00000372285	T|T	0.80994|0.72835	-1.44|-0.69	4.85|4.85	2.79|2.79	0.32731|0.32731	.|.	.|973.656000	.|0.00166	.|N	.|0.000013	T|T	0.50888|0.50888	0.1642|0.1642	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999941|0.999941	D|B	0.61080|0.12630	0.989|0.006	D|B	0.63957|0.08055	0.92|0.003	T|T	0.44174|0.44174	-0.9345|-0.9345	8|9	0.87932|0.08837	D|T	0|0.75	-0.7797|-0.7797	6.9938|6.9938	0.24769|0.24769	0.219:0.0:0.781:0.0|0.219:0.0:0.781:0.0	.|.	197|218	P25942-2|P25942	.|TNR5_HUMAN	V|L	197|218	ENSP00000361350:G197V|ENSP00000361359:V218L	ENSP00000361350:G197V|ENSP00000361359:V218L	G|V	+|+	2|1	0|0	CD40|CD40	44190381|44190381	0.001000|0.001000	0.12720|0.12720	0.097000|0.097000	0.21041|0.21041	0.112000|0.112000	0.19704|0.19704	-0.189000|-0.189000	0.09629|0.09629	0.549000|0.549000	0.28973|0.28973	0.478000|0.478000	0.44815|0.44815	GGT|GTG	-	NULL		0.498	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40	protein_coding	OTTHUMT00000080376.1	G	NM_001250		44190381	+1	no_errors	NM_001250	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
TIMM50	92609	genome.wustl.edu	37	19	39971490	39971490	+	5'UTR	SNP	C	C	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:39971490C>G	ENST00000607714.1	+	0	19				TIMM50_ENST00000314349.4_Silent_p.R102R|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'UTR			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCGTCAGCGCAAGATGGCGG	0.756																																																0			19											9.0	11.0	10.0					19																	39971490		2155	4176	6331	44663330	SO:0001623	5_prime_UTR_variant	92609			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.-4C>G	19.37:g.39971490C>G			44663330	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	superfamily_SSF56784,HMMPfam_NIF,HMMSmart_CPDc	p.R102	ENST00000607714.1	37	c.306		19																																																																																			-	NULL		0.756	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	protein_coding	OTTHUMT00000470728.1	C	NM_001001563		44663330	+1	no_errors	NM_001001563	genbank	human	validated	54_36p	silent	SNP	0.995	G
ADCK4	79934	genome.wustl.edu	37	19	41211305	41211305	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:41211305C>T	ENST00000324464.3	-	6	716	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ADCK4_ENST00000243583.6_Intron|ADCK4_ENST00000450541.1_Intron|RNU6-195P_ENST00000411352.1_RNA	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	139						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			ATCCGCTCGGCATTGGCCTCC	0.562																																																0			19											70.0	64.0	66.0					19																	41211305		2203	4300	6503	45903145	SO:0001583	missense	79934			AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.415G>A	19.37:g.41211305C>T	ENSP00000315118:p.Ala139Thr		45903145	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_ABC1	p.A139T	ENST00000324464.3	37	c.415	CCDS12562.1	19	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679466	0.68042	.	.	ENSG00000123815	ENST00000324464	D	0.81996	-1.56	4.72	4.72	0.59763	.	0.053759	0.64402	D	0.000001	D	0.86920	0.6049	M	0.74647	2.275	0.80722	D	1	P	0.49358	0.923	P	0.49597	0.616	D	0.89017	0.3432	10	0.66056	D	0.02	-6.821	16.4756	0.84131	0.0:1.0:0.0:0.0	.	139	Q96D53	ADCK4_HUMAN	T	139	ENSP00000315118:A139T	ENSP00000315118:A139T	A	-	1	0	ADCK4	45903145	1.000000	0.71417	0.407000	0.26434	0.777000	0.43975	7.468000	0.80943	2.167000	0.68274	0.561000	0.74099	GCC	-	NULL		0.562	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADCK4	protein_coding	OTTHUMT00000462731.1	C	NM_024876		45903145	-1	no_errors	NM_024876	genbank	human	validated	54_36p	missense	SNP	0.996	T
MRPS31P5	100887750	genome.wustl.edu	37	13	52760917	52760917	+	RNA	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr13:52760917G>A	ENST00000451298.1	-	0	1546				MRPS31P5_ENST00000416599.1_RNA																							AAACAGAGCAGCAGATGCAGC	0.463																																																0			13																																								51658918			374500																															13.37:g.52760917G>A			51658918		RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			-	-		0.463	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	THSD1P	processed_transcript	OTTHUMT00000471093.1	G			51658918	-1	pseudogene	NR_002816	genbank	human	provisional	54_36p	rna	SNP	0.252	A
PODN	127435	genome.wustl.edu	37	1	53540317	53540317	+	Missense_Mutation	SNP	A	A	G	rs367579309	byFrequency	TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:53540317A>G	ENST00000312553.5	+	4	597	c.590A>G	c.(589-591)aAt>aGt	p.N197S	PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.N178S|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	149					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAACCTCAATTACCTGTAC	0.562													A|||	2	0.000399361	0.0015	0.0	5008	,	,		15935	0.0		0.0	False		,,,				2504	0.0															0			1						A	,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	161.0	159.0	160.0		,590,533,533	5.5	1.0	1		160	0,8600		0,0,4300	no	intron,missense,missense,missense	PODN	NM_001199082.1,NM_153703.4,NM_001199081.1,NM_001199080.1	,46,46,46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,benign,benign,benign	,197/662,178/643,178/643	53540317	1,13005	2203	4300	6503	53312905	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.590A>G	1.37:g.53540317A>G	ENSP00000308315:p.Asn197Ser		53312905	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047	p.N197S	ENST00000312553.5	37	c.590	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301555	0.40694	2.27E-4	0.0	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.55760	0.5;0.5	5.51	5.51	0.81932	.	0.151959	0.64402	D	0.000019	T	0.28863	0.0716	N	0.03608	-0.345	0.80722	D	1	B;B	0.29136	0.234;0.041	B;B	0.25506	0.061;0.032	T	0.19582	-1.0301	10	0.14656	T	0.56	.	15.6342	0.76937	1.0:0.0:0.0:0.0	.	178;197	Q7Z5L7-2;Q7Z5L7-3	.;.	S	178;197	ENSP00000360555:N178S;ENSP00000308315:N197S	ENSP00000308315:N197S	N	+	2	0	PODN	53312905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.555000	0.60767	2.077000	0.62373	0.533000	0.62120	AAT	-	superfamily_SSF52058		0.562	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	protein_coding	OTTHUMT00000024735.1	A	NM_153703		53312905	+1	no_errors	NM_153703	genbank	human	validated	54_36p	missense	SNP	1.000	G
GYS1	2997	genome.wustl.edu	37	19	49496304	49496304	+	Silent	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:49496304G>A	ENST00000323798.3	-	1	262	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000544287.1_Intron|RUVBL2_ENST00000413176.2_5'Flank|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Silent_p.F22F|GYS1_ENST00000541188.1_Missense_Mutation_p.S3L|GYS1_ENST00000540532.1_Missense_Mutation_p.S3L|RUVBL2_ENST00000595090.1_5'Flank	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	22					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTCCAGGTCGAATTCATCCT	0.607											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			19											131.0	112.0	118.0					19																	49496304		2203	4300	6503	54188116	SO:0001819	synonymous_variant	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.66C>T	19.37:g.49496304G>A		962	54188116	Q9BTT9	Silent	SNP	HMMPfam_Glycogen_syn,superfamily_SSF53756	p.F22	ENST00000323798.3	37	c.66	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450646	0.63290	.	.	ENSG00000104812	ENST00000541188;ENST00000540532;ENST00000457974	T;T	0.61742	0.08;1.78	5.13	1.64	0.23874	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.24931	N	0.991913	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	8	0.87932	D	0	-27.6246	6.4937	0.22130	0.1759:0.2349:0.5893:0.0	.	3	B7Z806	.	L	3	ENSP00000437922:S3L;ENSP00000445197:S3L	ENSP00000406810:S3L	S	-	2	0	GYS1	54188116	0.993000	0.37304	1.000000	0.80357	0.959000	0.62525	0.349000	0.20055	0.682000	0.31407	-0.254000	0.11334	TCG	-	NULL		0.607	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	protein_coding	OTTHUMT00000319791.1	G	NM_002103		54188116	-1	no_errors	NM_002103	genbank	human	provisional	54_36p	silent	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50813046	50813046	+	Nonstop_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:50813046G>C	ENST00000596571.1	+	40	5987	c.5987G>C	c.(5986-5988)tGa>tCa	p.*1996S	MYH14_ENST00000376970.2_Nonstop_Mutation_p.*2029S|MYH14_ENST00000601313.1_Nonstop_Mutation_p.*2037S|MYH14_ENST00000598205.1_Nonstop_Mutation_p.*2004S|MYH14_ENST00000440075.2_Nonstop_Mutation_p.*2037S|MYH14_ENST00000262269.8_Nonstop_Mutation_p.*2037S|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000425460.1_Nonstop_Mutation_p.*2004S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	0					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACCCCCAGTGACCCTACCCT	0.687																																																0			19											14.0	18.0	17.0					19																	50813046		1932	4108	6040	55504858	SO:0001578	stop_lost	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5987G>C	19.37:g.50813046G>C	ENSP00000472819:p.*1996Serext*?		55504858	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Nonstop_Mutation	SNP	HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_tail_1,superfamily_Prefoldin	p.*2004S	ENST00000596571.1	37	c.6011	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	6.341	0.430960	0.12045	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	.	.	.	3.8	2.76	0.32466	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5986	0.39589	0.1068:0.0:0.8932:0.0	.	.	.	.	S	2037;2029;2004;1780;2037	.	.	X	+	2	2	MYH14	55504858	1.000000	0.71417	0.992000	0.48379	0.207000	0.24258	1.179000	0.31993	0.966000	0.38159	-0.362000	0.07510	TGA	-	NULL		0.687	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	G	NM_024729		55504858	+1	no_errors	NM_001077186	genbank	human	reviewed	54_36p	nonstop	SNP	0.212	C
SBK2	646643	genome.wustl.edu	37	19	56047409	56047409	+	Splice_Site	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:56047409C>A	ENST00000413299.1	-	2	290	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C	SBK2_ENST00000344158.3_Splice_Site_p.G85C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCCTCGTACCTTTCTGACGA	0.677																																																0			19											33.0	35.0	34.0					19																	56047409		1988	4145	6133	60739221	SO:0001630	splice_region_variant	0				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.253+1G>T	19.37:g.56047409C>A			60739221		Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.G85C	ENST00000413299.1	37	c.253	CCDS42631.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260077	0.80246	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.58797	0.31;0.31	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.90977	3.165	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.85199	0.1014	9	.	.	.	-25.8697	15.2974	0.73919	0.0:1.0:0.0:0.0	.	85	P0C263	SBK2_HUMAN	C	85	ENSP00000389015:G85C;ENSP00000345044:G85C	.	G	-	1	0	SBK2	60739221	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.896000	0.63222	2.277000	0.76020	0.462000	0.41574	GGC	-	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.677	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBK2	protein_coding	OTTHUMT00000341919.1	C	NM_001101401	Missense_Mutation	60739221	-1	no_errors	NM_001101401	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ZNF417	147687	genome.wustl.edu	37	19	58420493	58420493	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr19:58420493A>G	ENST00000312026.5	-	3	1317	c.1153T>C	c.(1153-1155)Tgt>Cgt	p.C385R	ZNF417_ENST00000536263.1_Missense_Mutation_p.C186R|ZNF417_ENST00000595559.1_Missense_Mutation_p.C384R|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GATTTTCCACATTCTCCACAC	0.438																																																0			19											179.0	166.0	170.0					19																	58420493		2203	4300	6503	63112305	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1153T>C	19.37:g.58420493A>G	ENSP00000311319:p.Cys385Arg		63112305	B4DEU1	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.C385R	ENST00000312026.5	37	c.1153	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	15.21	2.766918	0.49574	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	D;D	0.85955	-2.05;-2.05	2.21	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94450	0.8214	H	0.99347	4.525	0.51233	D	0.999915	D;D	0.76494	0.98;0.999	P;D	0.83275	0.742;0.996	D	0.92205	0.5771	9	0.87932	D	0	.	6.4432	0.21861	0.854:0.0:0.146:0.0	.	385;385	F5H0M9;Q8TAU3	.;ZN417_HUMAN	R	385;186	ENSP00000311319:C385R;ENSP00000442760:C186R	ENSP00000311319:C385R	C	-	1	0	ZNF417	63112305	0.997000	0.39634	0.487000	0.27428	0.196000	0.23810	4.054000	0.57434	1.025000	0.39708	0.254000	0.18369	TGT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.438	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	protein_coding	OTTHUMT00000466860.1	A	NM_152475		63112305	-1	no_errors	NM_152475	genbank	human	validated	54_36p	missense	SNP	0.983	G
TLE3	7090	genome.wustl.edu	37	15	70350516	70350516	+	Missense_Mutation	SNP	G	G	A	rs148338226		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr15:70350516G>A	ENST00000558939.1	-	12	2410	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S	TLE3_ENST00000539550.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000559048.1_Missense_Mutation_p.P350S|TLE3_ENST00000560939.1_Missense_Mutation_p.P350S|TLE3_ENST00000451782.2_Missense_Mutation_p.P345S|TLE3_ENST00000557907.1_Missense_Mutation_p.P345S|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000558379.1_Missense_Mutation_p.P345S|TLE3_ENST00000559929.1_Missense_Mutation_p.P355S|TLE3_ENST00000557997.1_Missense_Mutation_p.P345S|TLE3_ENST00000558201.1_Missense_Mutation_p.P351S|TLE3_ENST00000560589.1_Missense_Mutation_p.P289S|TLE3_ENST00000440567.3_Missense_Mutation_p.P338S|TLE3_ENST00000442299.2_Missense_Mutation_p.P345S	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	345	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCATGCCCGGAGGTTTACCC	0.627																																																0			15											103.0	106.0	105.0					15																	70350516		1981	4143	6124	68137570	SO:0001583	missense	7090			M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1033C>T	15.37:g.70350516G>A	ENSP00000452871:p.Pro345Ser		68137570	B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	HMMPfam_TLE_N,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.P345S	ENST00000558939.1	37	c.1033	CCDS45293.1	15	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621970	0.28889	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567	T;T;T	0.47869	0.83;0.89;0.89	5.44	0.98	0.19750	.	0.496599	0.22120	N	0.064354	T	0.38134	0.1029	M	0.62088	1.915	0.31265	N	0.692489	B;B;B;B;B;B	0.23937	0.007;0.021;0.007;0.094;0.022;0.037	B;B;B;B;B;B	0.24269	0.02;0.014;0.013;0.039;0.019;0.052	T	0.36529	-0.9744	10	0.46703	T	0.11	-11.6837	3.8519	0.08959	0.1554:0.2709:0.4611:0.1127	.	338;345;345;345;345;350	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726;Q04726-4	.;.;.;.;TLE3_HUMAN;.	S	345;345;345;338	ENSP00000390007:P345S;ENSP00000394717:P345S;ENSP00000415057:P338S	ENSP00000319233:P345S	P	-	1	0	TLE3	68137570	0.016000	0.18221	0.645000	0.29479	0.525000	0.34531	0.264000	0.18497	0.707000	0.31934	0.655000	0.94253	CCG	-	NULL		0.627	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE3	protein_coding	OTTHUMT00000416913.1	G	NM_005078		68137570	-1	no_errors	NM_005078	genbank	human	validated	54_36p	missense	SNP	0.836	A
SDK2	54549	genome.wustl.edu	37	17	71361404	71361404	+	Silent	SNP	G	G	A	rs142027922	byFrequency	TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:71361404G>A	ENST00000392650.3	-	38	5298	c.5298C>T	c.(5296-5298)ccC>ccT	p.P1766P	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.P1747P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1766	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACCATCCACGGGGCTGCAGG	0.612																																																0			17						A		0,4406		0,0,2203	26.0	26.0	26.0		5298	-7.6	0.9	17	dbSNP_134	26	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	SDK2	NM_001144952.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1766/2173	71361404	3,13003	2203	4300	6503	68872999	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5298C>T	17.37:g.71361404G>A			68872999	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3	p.P1445	ENST00000392650.3	37	c.4335	CCDS45769.1	17																																																																																			-	superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064		68872999	-1	no_errors	ENST00000334543	ensembl	human	known	54_36p	silent	SNP	0.097	A
HCN4	10021	genome.wustl.edu	37	15	73621968	73621968	+	Silent	SNP	G	G	A	rs146306966	byFrequency	TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr15:73621968G>A	ENST00000261917.3	-	4	2529	c.1536C>T	c.(1534-1536)caC>caT	p.H512H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	512					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCAGTGGCGTGGCCAATGA	0.647													G|||	4	0.000798722	0.0008	0.0	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.0031															0			15						G		2,4394	4.2+/-10.8	0,2,2196	89.0	78.0	81.0		1536	-4.1	1.0	15	dbSNP_134	81	0,8594		0,0,4297	no	coding-synonymous	HCN4	NM_005477.2		0,2,6493	AA,AG,GG		0.0,0.0455,0.0154		512/1204	73621968	2,12988	2198	4297	6495	71409021	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1536C>T	15.37:g.73621968G>A			71409021	Q9UMQ7	Silent	SNP	PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1	p.H512	ENST00000261917.3	37	c.1536	CCDS10248.1	15																																																																																			-	superfamily_SSF81324,HMMPfam_Ion_trans		0.647	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	protein_coding	OTTHUMT00000268900.2	G	NM_005477		71409021	-1	no_errors	NM_005477	genbank	human	reviewed	54_36p	silent	SNP	0.998	A
RNF157	114804	genome.wustl.edu	37	17	74158644	74158644	+	Missense_Mutation	SNP	G	G	C	rs556471872		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr17:74158644G>C	ENST00000269391.6	-	9	913	c.781C>G	c.(781-783)Caa>Gaa	p.Q261E	RNF157_ENST00000319945.6_Missense_Mutation_p.Q261E	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	261							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TTAGAATCTTGTGTGTTGTAC	0.438																																					GBM(186;507 2120 27388 27773 52994)											0			17											127.0	109.0	115.0					17																	74158644		2203	4300	6503	71670239	SO:0001583	missense	114804			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.781C>G	17.37:g.74158644G>C	ENSP00000269391:p.Gln261Glu		71670239	Q8NB72|Q96N56	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.Q261E	ENST00000269391.6	37	c.781	CCDS32740.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428222	0.83667	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23348	1.91;1.94	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.26042	0.785	0.80722	D	1	P;B	0.36110	0.537;0.23	B;B	0.36959	0.237;0.032	T	0.02202	-1.1196	10	0.36615	T	0.2	-43.6771	19.3121	0.94192	0.0:0.0:1.0:0.0	.	261;261	Q96PX1-2;Q96PX1	.;RN157_HUMAN	E	261;261;223	ENSP00000269391:Q261E;ENSP00000321837:Q261E	ENSP00000269391:Q261E	Q	-	1	0	RNF157	71670239	1.000000	0.71417	0.934000	0.37439	0.988000	0.76386	9.807000	0.99171	2.544000	0.85801	0.655000	0.94253	CAA	-	superfamily_RING/U-box		0.438	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	protein_coding	OTTHUMT00000255874.2	G	XM_290732		71670239	-1	no_errors	NM_052916	genbank	human	validated	54_36p	missense	SNP	1.000	C
DMRTC1	63947	genome.wustl.edu	37	X	72094690	72094690	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrX:72094690C>A	ENST00000373529.5	-	3	505	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	DMRTC1_ENST00000290273.5_Intron|DMRTC1_ENST00000373530.1_Intron	NM_033053.2	NP_149042.2	Q5HYR2	DMRTC_HUMAN	DMRT-like family C1	76					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2	Renal(35;0.156)					CTGTGGGGATCCCCAGAAGGA	0.602																																																0			X											1.0	1.0	1.0					X																	72094690		298	919	1217	72011415	SO:0001583	missense	63947			AJ291670	CCDS35333.2	Xq13.2	2010-05-12			ENSG00000159123	ENSG00000269502			13910	protein-coding gene	gene with protein product		300878					Standard	NM_033053		Approved		uc004ebb.3	Q5HYR2	OTTHUMG00000021820	ENST00000373529.5:c.226G>T	X.37:g.72094690C>A	ENSP00000362629:p.Asp76Tyr		72011415	Q5HYR0|Q5U5K2|Q8N6L3|Q96SD3	Missense_Mutation	SNP	NULL	p.D76Y	ENST00000373529.5	37	c.226	CCDS35333.2	X	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668601	0.14776	.	.	ENSG00000159123	ENST00000373529	T	0.31247	1.5	2.59	-1.17	0.09648	.	6.843170	0.00827	U	0.001628	T	0.27454	0.0674	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	7	0.72032	D	0.01	7.4118	3.5509	0.07845	0.0:0.5072:0.2418:0.251	.	.	.	.	Y	76	ENSP00000362629:D76Y	ENSP00000362629:D76Y	D	-	1	0	DMRTC1	72011415	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.102000	0.15272	-0.384000	0.07845	0.429000	0.28392	GAT	-	NULL		0.602	DMRTC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC1	protein_coding	OTTHUMT00000057216.3	C	NM_033053		72011415	-1	no_errors	NM_033053	genbank	human	validated	54_36p	missense	SNP	0.000	A
TNPO1	3842	genome.wustl.edu	37	5	72185735	72185735	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:72185735A>T	ENST00000337273.5	+	14	2078	c.1652A>T	c.(1651-1653)gAt>gTt	p.D551V	TNPO1_ENST00000506351.2_Missense_Mutation_p.D543V|TNPO1_ENST00000523768.1_Missense_Mutation_p.D501V|TNPO1_ENST00000454282.1_Missense_Mutation_p.D501V	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	551					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATTCTTTACGATGCCATAGGA	0.358																																																0			5											108.0	102.0	104.0					5																	72185735		2203	4300	6503	72221491	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1652A>T	5.37:g.72185735A>T	ENSP00000336712:p.Asp551Val		72221491	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT	p.D551V	ENST00000337273.5	37	c.1652	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424785	0.83667	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.91917	0.5544	10	0.87932	D	0	-7.7143	15.3236	0.74141	1.0:0.0:0.0:0.0	.	501;551	Q92973-3;Q92973	.;TNPO1_HUMAN	V	551;501;501;543;62	ENSP00000336712:D551V;ENSP00000398524:D501V;ENSP00000428899:D501V;ENSP00000425118:D543V	ENSP00000336712:D551V	D	+	2	0	TNPO1	72221491	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	8.905000	0.92613	2.091000	0.63221	0.528000	0.53228	GAT	-	superfamily_ARM repeat		0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	protein_coding	OTTHUMT00000218577.3	A	NM_002270		72221491	+1	no_errors	NM_002270	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NAV3	89795	genome.wustl.edu	37	12	78400952	78400952	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:78400952G>A	ENST00000397909.2	+	8	1807	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N	NAV3_ENST00000228327.6_Missense_Mutation_p.S545N|NAV3_ENST00000536525.2_Missense_Mutation_p.S545N|NAV3_ENST00000266692.7_Missense_Mutation_p.S545N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	545						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCACCTGGCAGCACAGCAAGC	0.453										HNSCC(70;0.22)																																						0			12											63.0	64.0	63.0					12																	78400952		1910	4126	6036	76925083	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1634G>A	12.37:g.78400952G>A	ENSP00000381007:p.Ser545Asn		76925083	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382	p.S545N	ENST00000397909.2	37	c.1634		12	.	.	.	.	.	.	.	.	.	.	G	3.783	-0.045209	0.07452	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.29	1.31	0.21738	.	0.491667	0.16815	N	0.198409	T	0.10508	0.0257	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.31024	-0.9958	10	0.29301	T	0.29	-2.762	5.3022	0.15783	0.3138:0.135:0.5513:0.0	.	545;545	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	N	545	ENSP00000446628:S545N;ENSP00000446132:S545N;ENSP00000381007:S545N;ENSP00000228327:S545N;ENSP00000266692:S545N	ENSP00000228327:S545N	S	+	2	0	NAV3	76925083	0.000000	0.05858	0.003000	0.11579	0.986000	0.74619	0.261000	0.18442	-0.027000	0.13873	0.650000	0.86243	AGC	-	NULL		0.453	NAV3-001	KNOWN	basic	protein_coding	NAV3	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		76925083	+1	no_errors	NM_014903	genbank	human	validated	54_36p	missense	SNP	0.002	A
DOPEY1	23033	genome.wustl.edu	37	6	83845492	83845492	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr6:83845492G>A	ENST00000349129.2	+	20	3285	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.V1000I|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V990I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1009					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AACTCAGAGGGTTTCAGTACA	0.448																																																0			6											154.0	138.0	144.0					6																	83845492		2203	4299	6502	83902211	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3025G>A	6.37:g.83845492G>A	ENSP00000195654:p.Val1009Ile		83902211	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	HMMPfam_Dopey_N	p.V1009I	ENST00000349129.2	37	c.3025	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346664	0.41599	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21932	1.98;1.98	5.48	5.48	0.80851	.	0.058137	0.64402	D	0.000002	T	0.06371	0.0164	N	0.21448	0.665	0.80722	D	1	B;B;B	0.11235	0.004;0.003;0.003	B;B;B	0.14023	0.01;0.004;0.004	T	0.20472	-1.0274	10	0.15499	T	0.54	.	13.6386	0.62237	0.0739:0.0:0.9261:0.0	.	900;1000;1009	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	I	1009;990;990	ENSP00000195654:V1009I;ENSP00000237163:V990I	ENSP00000237163:V990I	V	+	1	0	DOPEY1	83902211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.422000	0.66453	2.568000	0.86640	0.655000	0.94253	GTT	-	NULL		0.448	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	protein_coding	OTTHUMT00000043785.2	G	NM_015018		83902211	+1	no_errors	NM_015018	genbank	human	validated	54_36p	missense	SNP	1.000	A
DDAH1	23576	genome.wustl.edu	37	1	85787166	85787166	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:85787166G>A	ENST00000284031.8	-	6	921	c.827C>T	c.(826-828)tCa>tTa	p.S276L	DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.S276L|DDAH1_ENST00000542148.1_Missense_Mutation_p.S176L|DDAH1_ENST00000426972.3_Missense_Mutation_p.S183L|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.S173L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	276					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	AATTAAAACTGAGCAGCAGGT	0.532																																																0			1											82.0	77.0	78.0					1																	85787166		2203	4300	6503	85559754	SO:0001583	missense	23576			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.827C>T	1.37:g.85787166G>A	ENSP00000284031:p.Ser276Leu		85559754	Q5HYC8|Q86XK5	Missense_Mutation	SNP	HMMPfam_Amidinotransf,superfamily_Pentein	p.S276L	ENST00000284031.8	37	c.827	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485723	0.84854	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.72	5.72	0.89469	.	0.181950	0.48286	D	0.000185	D	0.86041	0.5838	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88039	0.2780	9	0.66056	D	0.02	-5.4071	20.2504	0.98404	0.0:0.0:1.0:0.0	.	176;276	B4DYP1;O94760	.;DDAH1_HUMAN	L	276;276;173;183;176	.	ENSP00000284031:S276L	S	-	2	0	DDAH1	85559754	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	6.034000	0.70933	2.850000	0.98022	0.650000	0.86243	TCA	-	HMMPfam_Amidinotransf,superfamily_Pentein		0.532	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	protein_coding	OTTHUMT00000029189.1	G			85559754	-1	no_errors	NM_012137	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
TLL2	7093	genome.wustl.edu	37	10	98133517	98133517	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr10:98133517T>G	ENST00000357947.3	-	19	2723	c.2498A>C	c.(2497-2499)cAc>cCc	p.H833P		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	833	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CATTTCCAGGTGGTCATAGGC	0.582																																																0			10											63.0	64.0	64.0					10																	98133517		2203	4300	6503	98123507	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2498A>C	10.37:g.98133517T>G	ENSP00000350630:p.His833Pro		98123507	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	PatternScan_EGF_1,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Astacin,PatternScan_ZINC_PROTEASE,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,PatternScan_EGF_CA,HMMSmart_EGF_CA,HMMPfam_EGF_CA,superfamily_SSF57196,PatternScan_EGF_2,HMMPfam_EGF	p.H833P	ENST00000357947.3	37	c.2498	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391423	0.83011	.	.	ENSG00000095587	ENST00000357947	T	0.34667	1.35	4.85	3.72	0.42706	CUB (5);	0.000000	0.48286	D	0.000191	T	0.59582	0.2204	M	0.91972	3.26	0.58432	D	0.999995	D	0.55800	0.973	P	0.57244	0.816	T	0.66097	-0.6008	10	0.66056	D	0.02	.	9.8391	0.40989	0.0:0.0806:0.0:0.9194	.	833	Q9Y6L7	TLL2_HUMAN	P	833	ENSP00000350630:H833P	ENSP00000350630:H833P	H	-	2	0	TLL2	98123507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.097000	0.71452	0.994000	0.38892	0.459000	0.35465	CAC	-	superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB		0.582	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	protein_coding	OTTHUMT00000049608.1	T			98123507	-1	no_errors	NM_012465	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
FBXO24	26261	genome.wustl.edu	37	7	100197772	100197772	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr7:100197772G>C	ENST00000241071.6	+	9	1647	c.1325G>C	c.(1324-1326)cGc>cCc	p.R442P	FBXO24_ENST00000427939.2_Missense_Mutation_p.R480P|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000223061.5_5'Flank|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R430P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	442					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGGGGGCCGCCTCCCAGGC	0.662																																																0			7											13.0	15.0	14.0					7																	100197772		2200	4293	6493	100035708	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.1325G>C	7.37:g.100197772G>C	ENSP00000241071:p.Arg442Pro		100035708	A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256,superfamily_RCC1/BLIP-II	p.R442P	ENST00000241071.6	37	c.1325	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759474	0.69763	.	.	ENSG00000106336	ENST00000241071;ENST00000468962;ENST00000427939	T;T;T	0.80738	-1.41;-1.41;-1.41	4.44	4.44	0.53790	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.49916	D	0.000127	D	0.83101	0.5181	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	D	0.85726	0.1328	10	0.87932	D	0	-16.438	14.5786	0.68268	0.0:0.0:1.0:0.0	.	430;480;442	B4DY42;B4DX91;O75426	.;.;FBX24_HUMAN	P	442;430;480	ENSP00000241071:R442P;ENSP00000420239:R430P;ENSP00000416558:R480P	ENSP00000241071:R442P	R	+	2	0	FBXO24	100035708	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	4.979000	0.63806	2.023000	0.59567	0.442000	0.29010	CGC	-	superfamily_RCC1/BLIP-II		0.662	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	protein_coding	OTTHUMT00000356104.1	G			100035708	+1	no_errors	NM_033506	genbank	human	reviewed	54_36p	missense	SNP	0.999	C
MUC17	140453	genome.wustl.edu	37	7	100679985	100679985	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr7:100679985G>T	ENST00000306151.4	+	3	5352	c.5288G>T	c.(5287-5289)aGt>aTt	p.S1763I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1763	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTACTCAGTTCTGAGGCT	0.502																																																0			7											292.0	305.0	301.0					7																	100679985		2203	4300	6503	100466705	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5288G>T	7.37:g.100679985G>T	ENSP00000302716:p.Ser1763Ile		100466705	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.S1763I	ENST00000306151.4	37	c.5288	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779643	0.02929	.	.	ENSG00000169876	ENST00000306151	T	0.02050	4.48	0.512	0.512	0.16994	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	D	0.54964	0.969	B	0.43728	0.429	T	0.53535	-0.8425	8	0.45353	T	0.12	.	.	.	.	.	1763	Q685J3	MUC17_HUMAN	I	1763	ENSP00000302716:S1763I	ENSP00000302716:S1763I	S	+	2	0	MUC17	100466705	0.007000	0.16637	0.007000	0.13788	0.012000	0.07955	-0.931000	0.03967	0.551000	0.29008	0.134000	0.15878	AGT	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100466705	+1	no_errors	NM_001040105	genbank	human	provisional	54_36p	missense	SNP	0.002	T
ZFPM2	23414	genome.wustl.edu	37	8	106814636	106814636	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr8:106814636C>A	ENST00000407775.2	+	8	2576	c.2326C>A	c.(2326-2328)Ccc>Acc	p.P776T	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P644T|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P507T|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P644T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	776					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACTCAAGAACCCACAGAAGG	0.468																																																0			8											65.0	64.0	64.0					8																	106814636		1932	4133	6065	106883812	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2326C>A	8.37:g.106814636C>A	ENSP00000384179:p.Pro776Thr		106883812	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P776T	ENST00000407775.2	37	c.2326	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	2.554	-0.303367	0.05495	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17528	2.27;2.75;2.75;3.96	5.72	2.85	0.33270	.	0.290139	0.39687	N	0.001295	T	0.06554	0.0168	N	0.04508	-0.205	0.26118	N	0.980582	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.20519	T	0.43	.	6.7617	0.23544	0.0:0.5633:0.2584:0.1782	.	776	Q8WW38	FOG2_HUMAN	T	776;644;644;507	ENSP00000384179:P776T;ENSP00000430757:P644T;ENSP00000428720:P644T;ENSP00000367733:P507T	ENSP00000367733:P507T	P	+	1	0	ZFPM2	106883812	0.029000	0.19370	0.944000	0.38274	0.991000	0.79684	0.372000	0.20467	0.734000	0.32515	0.561000	0.74099	CCC	-	NULL		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	C			106883812	+1	no_errors	NM_012082	genbank	human	reviewed	54_36p	missense	SNP	0.281	A
KDELC2	143888	genome.wustl.edu	37	11	108345580	108345580	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr11:108345580T>G	ENST00000323468.5	-	8	1563	c.1498A>C	c.(1498-1500)Aaa>Caa	p.K500Q	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000434945.2_Missense_Mutation_p.K444Q	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	500						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GAAGGCTTTTTCCTGTGGCAC	0.483																																																0			11											170.0	172.0	171.0					11																	108345580		1957	4135	6092	107850790	SO:0001583	missense	143888			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1498A>C	11.37:g.108345580T>G	ENSP00000315386:p.Lys500Gln		107850790	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	HMMPfam_Filamin,superfamily_E set domains,HMMSmart_SM00557,HMMSmart_SM00672	p.K500Q	ENST00000323468.5	37	c.1498	CCDS41711.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.47|12.47	1.948650|1.948650	0.34377|0.34377	.|.	.|.	ENSG00000178202|ENSG00000178202	ENST00000530318|ENST00000323468;ENST00000434945	.|T;T	.|0.19394	.|2.15;2.16	4.73|4.73	3.58|3.58	0.41010|0.41010	.|.	.|0.468579	.|0.24463	.|N	.|0.038314	T|T	0.18676|0.18676	0.0448|0.0448	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19073	.|0.033;0.01	.|B;B	.|0.26310	.|0.068;0.015	T|T	0.03818|0.03818	-1.1001|-1.1001	5|10	.|0.49607	.|T	.|0.09	-31.6036|-31.6036	9.9392|9.9392	0.41570|0.41570	0.0:0.0838:0.0:0.9162|0.0:0.0838:0.0:0.9162	.|.	.|500;444	.|Q7Z4H8;Q7Z4H8-2	.|KDEL2_HUMAN;.	A|Q	152|500;444	.|ENSP00000315386:K500Q;ENSP00000413429:K444Q	.|ENSP00000315386:K500Q	E|K	-|-	2|1	0|0	KDELC2|KDELC2	107850790|107850790	0.616000|0.616000	0.27035|0.27035	0.204000|0.204000	0.23530|0.23530	0.934000|0.934000	0.57294|0.57294	1.377000|1.377000	0.34317|0.34317	0.941000|0.941000	0.37499|0.37499	0.529000|0.529000	0.55759|0.55759	GAA|AAA	-	NULL		0.483	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC2	protein_coding	OTTHUMT00000390273.1	T	NM_153705		107850790	-1	no_errors	NM_153705	genbank	human	validated	54_36p	missense	SNP	0.673	G
LRCH2	57631	genome.wustl.edu	37	X	114414017	114414017	+	Silent	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chrX:114414017G>A	ENST00000317135.8	-	5	867	c.837C>T	c.(835-837)aaC>aaT	p.N279N	LRCH2_ENST00000538422.1_Silent_p.N279N	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	279										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GCAATGGATTGTTATCCAAAA	0.308																																																0			X											32.0	26.0	28.0					X																	114414017		1765	3963	5728	114320273	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.837C>T	X.37:g.114414017G>A			114320273	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH	p.N279	ENST00000317135.8	37	c.837	CCDS48155.1	X																																																																																			-	superfamily_SSF52058		0.308	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	protein_coding	OTTHUMT00000057971.2	G	NM_020871		114320273	-1	no_errors	NM_020871	genbank	human	validated	54_36p	silent	SNP	1.000	A
NRAS	4893	genome.wustl.edu	37	1	115258686	115258686	+	Nonsense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:115258686A>C	ENST00000369535.4	-	2	349	c.96T>G	c.(94-96)taT>taG	p.Y32*	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	32					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTGGGATCATATTCATCTA	0.468		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	0			1											165.0	143.0	151.0					1																	115258686		2203	4300	6503	115060209	SO:0001587	stop_gained	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.96T>G	1.37:g.115258686A>C	ENSP00000358548:p.Tyr32*		115060209	Q14971|Q15104|Q15282	Nonsense_Mutation	SNP	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174	p.Y32*	ENST00000369535.4	37	c.96	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	A	37	6.384794	0.97524	.	.	ENSG00000213281	ENST00000369535	.	.	.	5.45	5.45	0.79879	.	0.000000	0.52532	U	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3744	0.32434	0.8824:0.0:0.1176:0.0	.	.	.	.	X	32	.	ENSP00000358548:Y32X	Y	-	3	2	NRAS	115060209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.562000	0.36353	2.289000	0.77006	0.460000	0.39030	TAT	-	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174		0.468	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	A	NM_002524		115060209	-1	no_errors	NM_002524	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	C
TRAPPC4	51399	genome.wustl.edu	37	11	118896779	118896779	+	IGR	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr11:118896779G>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000357590.5_Silent_p.S294S|SLC37A4_ENST00000545985.1_Silent_p.S294S|SLC37A4_ENST00000330775.7_Silent_p.S293S|SLC37A4_ENST00000538950.1_Silent_p.S221S|SLC37A4_ENST00000525102.1_5'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TCCCGTAGTTGGACAGTCCCG	0.582																																																0			11											57.0	66.0	63.0					11																	118896779		2093	4230	6323	118401989	SO:0001628	intergenic_variant	2542			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118896779G>T			118401989	A8K3A5|B4DME1	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1,PatternScan_GLPT	p.Q295K	ENST00000533632.1	37	c.883	CCDS8407.1	11																																																																																			-	NULL		0.582	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A4	protein_coding	OTTHUMT00000389332.1	G	NM_016146		118401989	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_001467	genbank	human	validated	54_36p	missense	SNP	0.012	T
GLT1D1	144423	genome.wustl.edu	37	12	129467541	129467541	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:129467541G>A	ENST00000442111.2	+	12	1035	c.947G>A	c.(946-948)gGa>gAa	p.G316E	GLT1D1_ENST00000537468.1_Missense_Mutation_p.G321E|GLT1D1_ENST00000542193.1_Missense_Mutation_p.G233E|GLT1D1_ENST00000281703.6_Missense_Mutation_p.G236E			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	316					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GTAGTGAACGGAAGGGAATAC	0.448																																																0			12											202.0	183.0	190.0					12																	129467541		2203	4300	6503	128033494	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.947G>A	12.37:g.129467541G>A	ENSP00000394692:p.Gly316Glu		128033494	Q86XG8	Missense_Mutation	SNP	superfamily_SSF53756,HMMPfam_Glycos_transf_1	p.G236E	ENST00000442111.2	37	c.707		12	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696039	0.48202	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.13	3.26	0.37387	.	0.247600	0.39475	N	0.001341	D	0.83529	0.5274	M	0.82517	2.595	0.09310	N	1	P;B	0.40211	0.707;0.011	B;B	0.42653	0.394;0.016	T	0.77054	-0.2730	10	0.87932	D	0	-36.5418	7.7465	0.28873	0.0861:0.311:0.603:0.0	.	321;236	F5H088;Q96MS3-2	.;.	E	316;236;321;233	ENSP00000394692:G316E;ENSP00000281703:G236E;ENSP00000438158:G321E;ENSP00000437500:G233E	ENSP00000281703:G236E	G	+	2	0	GLT1D1	128033494	0.939000	0.31865	0.009000	0.14445	0.001000	0.01503	2.104000	0.41815	0.644000	0.30656	-0.244000	0.11960	GGA	-	superfamily_SSF53756,HMMPfam_Glycos_transf_1		0.448	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	protein_coding	OTTHUMT00000399740.1	G	NM_144669		128033494	+1	no_errors	NM_144669	genbank	human	provisional	54_36p	missense	SNP	0.014	A
PCDHGA4	56111	genome.wustl.edu	37	5	140736622	140736622	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:140736622G>A	ENST00000571252.1	+	1	1855	c.1855G>A	c.(1855-1857)Gtg>Atg	p.V619M	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	619	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTATTTGCAGTGGGGCTGCA	0.622																																																0			5											37.0	44.0	42.0					5																	140736622		2197	4297	6494	140716806	SO:0001583	missense	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1855G>A	5.37:g.140736622G>A	ENSP00000458570:p.Val619Met		140716806	Q9Y5D3	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.V619M	ENST00000571252.1	37	c.1855	CCDS58979.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.622	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	G	NM_018917		140716806	+1	no_errors	NM_018917	genbank	human	reviewed	54_36p	missense	SNP	0.310	A
LRP1B	53353	genome.wustl.edu	37	2	141986817	141986817	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:141986817A>C	ENST00000389484.3	-	6	1756	c.785T>G	c.(784-786)aTc>aGc	p.I262S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	262					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTATCTGGATACATTTGAG	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											113.0	111.0	112.0					2																	141986817		2202	4300	6502	141703287	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.785T>G	2.37:g.141986817A>C	ENSP00000374135:p.Ile262Ser		141703287	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,HMMPfam_EGF,HMMPfam_NHL,HMMPfam_EGF_2,PatternScan_EGF_1	p.I262S	ENST00000389484.3	37	c.785	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	12.20	1.868017	0.32977	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.2	2.79	0.32731	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.326134	0.27941	U	0.017234	T	0.77191	0.4094	N	0.08118	0	0.21499	N	0.999667	B	0.06786	0.001	B	0.09377	0.004	T	0.60747	-0.7202	10	0.22109	T	0.4	.	0.9889	0.01452	0.4867:0.1951:0.1428:0.1754	.	262	Q9NZR2	LRP1B_HUMAN	S	262;200	ENSP00000374135:I262S	ENSP00000374135:I262S	I	-	2	0	LRP1B	141703287	0.984000	0.35163	0.978000	0.43139	0.995000	0.86356	1.573000	0.36472	0.809000	0.34255	0.477000	0.44152	ATC	-	superfamily_SSF63825,HMMSmart_LY		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	A	NM_018557		141703287	-1	no_errors	NM_018557	genbank	human	validated	54_36p	missense	SNP	0.935	C
ANKRD35	148741	genome.wustl.edu	37	1	145566771	145566771	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:145566771T>C	ENST00000355594.4	+	11	2960	c.2873T>C	c.(2872-2874)cTg>cCg	p.L958P		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	958										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGCAGCTGCAGGTATGT	0.498																																					Melanoma(9;127 754 22988 51047)											0			1											83.0	79.0	80.0					1																	145566771		2203	4300	6503	144278128	SO:0001583	missense	148741			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2873T>C	1.37:g.145566771T>C	ENSP00000347802:p.Leu958Pro		144278128	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.L958P	ENST00000355594.4	37	c.2873	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587483	0.66105	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.61627	0.09	4.68	4.68	0.58851	.	0.218569	0.23277	N	0.049949	T	0.65923	0.2738	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.71155	-0.4675	10	0.72032	D	0.01	-2.4151	10.5072	0.44841	0.0:0.0:0.0:1.0	.	958	Q8N283	ANR35_HUMAN	P	867;958	ENSP00000347802:L958P	ENSP00000347802:L958P	L	+	2	0	ANKRD35	144278128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.709000	0.54853	1.988000	0.58038	0.456000	0.33151	CTG	-	NULL		0.498	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	protein_coding	OTTHUMT00000038515.1	T	NM_144698		144278128	+1	no_errors	NM_144698	genbank	human	validated	54_36p	missense	SNP	1.000	C
FLG2	388698	genome.wustl.edu	37	1	152325790	152325790	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:152325790G>C	ENST00000388718.5	-	3	4544	c.4472C>G	c.(4471-4473)tCc>tGc	p.S1491C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1491					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTGTACTGGACCCTCTCTG	0.527																																																0			1											356.0	340.0	345.0					1																	152325790		2203	4300	6503	150592414	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4472C>G	1.37:g.152325790G>C	ENSP00000373370:p.Ser1491Cys		150592414	Q9H4U1	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin	p.S1491C	ENST00000388718.5	37	c.4472	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	g	9.172	1.021328	0.19433	.	.	ENSG00000143520	ENST00000388718	T	0.08634	3.07	3.08	1.14	0.20703	.	.	.	.	.	T	0.07593	0.0191	M	0.69358	2.11	0.09310	N	1	D	0.69078	0.997	P	0.55545	0.778	T	0.16928	-1.0386	9	0.66056	D	0.02	-7.0E-4	4.8175	0.13374	0.2977:0.0:0.7023:0.0	.	1491	Q5D862	FILA2_HUMAN	C	1491	ENSP00000373370:S1491C	ENSP00000373370:S1491C	S	-	2	0	FLG2	150592414	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	0.215000	0.17562	0.664000	0.31047	0.297000	0.19635	TCC	-	NULL		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		150592414	-1	no_errors	NM_001014342	genbank	human	provisional	54_36p	missense	SNP	0.002	C
AKAP12	9590	genome.wustl.edu	37	6	151672607	151672607	+	Silent	SNP	T	T	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr6:151672607T>G	ENST00000253332.1	+	3	3270	c.3081T>G	c.(3079-3081)ggT>ggG	p.G1027G	AKAP12_ENST00000402676.2_Silent_p.G1027G|AKAP12_ENST00000354675.6_Silent_p.G929G|AKAP12_ENST00000359755.5_Silent_p.G922G			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1027					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGTGGAAGGTGGCGTACCTG	0.577																																					Melanoma(141;1616 1805 10049 24534 51979)											0			6											60.0	58.0	59.0					6																	151672607		2203	4300	6503	151714300	SO:0001819	synonymous_variant	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3081T>G	6.37:g.151672607T>G			151714300	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	HMMPfam_WSK,HMMPfam_RII_binding_1	p.G1027	ENST00000253332.1	37	c.3081	CCDS5229.1	6																																																																																			-	NULL		0.577	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	protein_coding	OTTHUMT00000042712.1	T			151714300	+1	no_errors	NM_005100	genbank	human	reviewed	54_36p	silent	SNP	0.000	G
DOCK2	1794	genome.wustl.edu	37	5	169116297	169116297	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr5:169116297A>G	ENST00000256935.8	+	9	883	c.803A>G	c.(802-804)aAg>aGg	p.K268R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	268					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTTCCCTAAGGAGATTGAG	0.527																																																0			5											137.0	118.0	124.0					5																	169116297		2203	4300	6503	169048875	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.803A>G	5.37:g.169116297A>G	ENSP00000256935:p.Lys268Arg		169048875	Q2M3I0|Q96AK7	Missense_Mutation	SNP	superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c	p.K268R	ENST00000256935.8	37	c.803	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896241	0.52121	.	.	ENSG00000134516	ENST00000256935	T	0.18657	2.2	5.96	5.96	0.96718	.	0.043104	0.85682	D	0.000000	T	0.22975	0.0555	L	0.56280	1.765	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.03384	-1.1042	10	0.18710	T	0.47	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	268	Q92608	DOCK2_HUMAN	R	268	ENSP00000256935:K268R	ENSP00000256935:K268R	K	+	2	0	DOCK2	169048875	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.432000	0.80349	2.285000	0.76669	0.533000	0.62120	AAG	-	NULL		0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	A	NM_004946		169048875	+1	no_errors	NM_004946	genbank	human	validated	54_36p	missense	SNP	1.000	G
CACNA1E	777	genome.wustl.edu	37	1	181453026	181453026	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:181453026C>G	ENST00000367573.2	+	1	146	c.146C>G	c.(145-147)aCt>aGt	p.T49S	CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T49S|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T49S|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T49S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	49					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGCGCGGACTATGGCTTTG	0.582																																																0			1											84.0	93.0	90.0					1																	181453026		1916	4109	6025	179719649	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.146C>G	1.37:g.181453026C>G	ENSP00000356545:p.Thr49Ser		179719649	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ	p.T49S	ENST00000367573.2	37	c.146	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450765	0.84101	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97404	-4.37;-4.02;-4.05;-4.15;-4.04	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.98444	0.9482	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.99301	1.0901	10	0.72032	D	0.01	.	18.5497	0.91058	0.0:1.0:0.0:0.0	.	49	Q15878-3	.	S	49	ENSP00000432038:T49S;ENSP00000356542:T49S;ENSP00000434814:T49S;ENSP00000353222:T49S;ENSP00000356545:T49S	ENSP00000353222:T49S	T	+	2	0	CACNA1E	179719649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.667000	0.90743	0.561000	0.74099	ACT	-	superfamily_Voltage-gated potassium channels		0.582	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721		179719649	+1	no_errors	NM_000721	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
FAT1	2195	genome.wustl.edu	37	4	187629980	187629980	+	Silent	SNP	G	G	C			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr4:187629980G>C	ENST00000441802.2	-	2	1211	c.1002C>G	c.(1000-1002)ctC>ctG	p.L334L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	334					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCTGTAGTGTGAGATTGTAGC	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											199.0	190.0	193.0					4																	187629980		1909	4125	6034	187866974	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1002C>G	4.37:g.187629980G>C			187866974		Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CADHERIN_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL	p.L334	ENST00000441802.2	37	c.1002	CCDS47177.1	4																																																																																			-	superfamily_Cadherin-like,HMMSmart_SM00112		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187866974	-1	no_errors	NM_005245	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
LGR6	59352	genome.wustl.edu	37	1	202287879	202287879	+	Silent	SNP	G	G	T			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:202287879G>T	ENST00000367278.3	+	18	2537	c.2448G>T	c.(2446-2448)ctG>ctT	p.L816L	LGR6_ENST00000255432.7_Silent_p.L764L|LGR6_ENST00000439764.2_Silent_p.L677L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	816					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGGTGCTGCCCCTGCCTG	0.667																																																0			1											103.0	93.0	96.0					1																	202287879		2203	4300	6503	200554502	SO:0001819	synonymous_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2448G>T	1.37:g.202287879G>T			200554502	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_RNI-like,HMMSmart_SM00369,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00365,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1	p.L816	ENST00000367278.3	37	c.2448	CCDS30971.1	1																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	protein_coding	OTTHUMT00000099143.1	G	NM_021636		200554502	+1	no_errors	NM_001017403	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
MIA3	375056	genome.wustl.edu	37	1	222802072	222802072	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr1:222802072C>A	ENST00000344922.5	+	4	1535	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.L504I	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	504					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGCAATAACCTCAACTCTAT	0.398																																																0			1											147.0	145.0	145.0					1																	222802072		1935	4123	6058	220868695	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1510C>A	1.37:g.222802072C>A	ENSP00000340900:p.Leu504Ile		220868695	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_2	p.L504I	ENST00000344922.5	37	c.1510	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.81|10.81	1.454470|1.454470	0.26161|0.26161	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.42513|.	0.97;0.97|.	4.24|4.24	2.34|2.34	0.29019|0.29019	.|.	.|.	.|.	.|.	.|.	T|T	0.41994|0.41994	0.1183|0.1183	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	P;D|.	0.63046|.	0.904;0.992|.	B;P|.	0.51324|.	0.408;0.666|.	T|T	0.27938|0.27938	-1.0059|-1.0059	9|5	0.34782|.	T|.	0.22|.	.|.	7.5673|7.5673	0.27887|0.27887	0.0:0.7332:0.0:0.2668|0.0:0.7332:0.0:0.2668	.|.	504;504|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	I|H	504|86	ENSP00000340900:L504I;ENSP00000340587:L504I|.	ENSP00000325973:L504I|.	L|P	+|+	1|2	0|0	MIA3|MIA3	220868695|220868695	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.139000|0.139000	0.21198|0.21198	0.867000|0.867000	0.27968|0.27968	0.349000|0.349000	0.23975|0.23975	0.305000|0.305000	0.20034|0.20034	CTC|CCT	-	NULL		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	protein_coding	OTTHUMT00000091489.4	C	NM_198551		220868695	+1	no_errors	NM_198551	genbank	human	validated	54_36p	missense	SNP	0.000	A
DNAH11	8701	genome.wustl.edu	37	7	21726982	21727000	+	Splice_Site	DEL	CCTCACTTTATCATTTAGT	CCTCACTTTATCATTTAGT	-	rs529906077		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	CCTCACTTTATCATTTAGT	CCTCACTTTATCATTTAGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr7:21726982_21727000delCCTCACTTTATCATTTAGT	ENST00000409508.3	+	34	5809_5810	c.5778_5779delCCTCACTTTATCATTTAGT	c.(5776-5781)aacctc>aatc	p.L1927fs	DNAH11_ENST00000328843.6_Splice_Site_p.L1934fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1934	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTCTGAGTGCCTCACTTTATCATTTAGTCCATAGGCAA	0.384									Kartagener syndrome																																							0			7																																								21693525	SO:0001630	splice_region_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5779-1CCTCACTTTATCATTTAGT>-	7.37:g.21726982_21727000delCCTCACTTTATCATTTAGT			21693507	Q9UJ82	Splice_Site	DEL	-	e35-1	ENST00000409508.3	37	c.5800-18_5800-1		7																																																																																			(deletion:intron[21693399,21693524], cds_exon[21693525,21693670])	-		0.384	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	CCTCACTTTATCATTTAGT	NM_003777	Frame_Shift_Del	21693525	+1	no_errors	ENST00000328843	ensembl	human	known	54_36p	splice_site_del	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.001:0.349:0.419:0.419:1.000:1.000:1.000	-
AC016995.3	0	genome.wustl.edu	37	2	38710041	38710043	+	lincRNA	DEL	AAT	AAT	-	rs74326517|rs574017590|rs77740865		TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	AAT	AAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr2:38710041_38710043delAAT	ENST00000417039.1	-	0	696																											taaataaataaataataaataaa	0.266																																																0			2																																								38563547			220717																															2.37:g.38710044_38710046delAAT			38563545		RNA	DEL	-	NULL	ENST00000417039.1	37	NULL		2																																																																																			(deletion:rna[38562421,38563591])	-		0.266	AC016995.3-001	KNOWN	basic	lincRNA	RPLP0-like	lincRNA	OTTHUMT00000331173.1	AAT			38563547	+1	pseudogene	XR_017813	genbank	human	model	54_36p	rna	DEL	0.003:0.003:0.002	-
SLC11A2	4891	genome.wustl.edu	37	12	51402279	51402292	+	Frame_Shift_Del	DEL	TCTTCTCATTAAAG	TCTTCTCATTAAAG	-			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	TCTTCTCATTAAAG	TCTTCTCATTAAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr12:51402279_51402292delTCTTCTCATTAAAG	ENST00000262051.7	-	3	237_250	c.150_163delCTTTAATGAGAAGA	c.(148-165)tactttaatgagaagatcfs	p.FNEKI51fs	SLC11A2_ENST00000545993.2_Frame_Shift_Del_p.FNEKI47fs|SLC11A2_ENST00000262052.5_Frame_Shift_Del_p.FNEKI51fs|SLC11A2_ENST00000547198.1_Frame_Shift_Del_p.FNEKI51fs|SLC11A2_ENST00000394904.3_Frame_Shift_Del_p.FNEKI80fs|SLC11A2_ENST00000541174.2_Frame_Shift_Del_p.FNEKI51fs|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547688.1_Frame_Shift_Del_p.FNEKI80fs	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	51					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						GGAATGGAGATCTTCTCATTAAAGTAAGTGGCGA	0.481																																																0			12																																								49688559	SO:0001589	frameshift_variant	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.150_163delCTTTAATGAGAAGA	12.37:g.51402279_51402292delTCTTCTCATTAAAG	ENSP00000262051:p.Phe51fs		49688546	B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Frame_Shift_Del	DEL	HMMPfam_Nramp	p.F51fs	ENST00000262051.7	37	c.163_150	CCDS53792.1	12																																																																																			(deletion:cds_exon[49688526,49688674])	NULL		0.481	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	protein_coding	OTTHUMT00000404383.1	TCTTCTCATTAAAG			49688559	-1	no_errors	NM_000617	genbank	human	validated	54_36p	frame_shift_del	DEL	0.981:0.985:0.996:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000	-
REXO1L2P	100288527	genome.wustl.edu	37	8	86840652	86840652	+	IGR	DEL	C	C	-			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr8:86840652delC								REXO1L10P (81907 upstream) : CTA-392E5.1 (11281 downstream)																							CCGTCACCATCTTGGGCCACG	0.677																																																0			8																																								86909940	SO:0001628	intergenic_variant	441363																															8.37:g.86840652delC			86909940		RNA	DEL	-	NULL		37	NULL		8																																																																																			(deletion:rna[86908388,86910219])	-	0	0.677					REXO1L7P			C			86909940	-1	pseudogene	XR_041982	genbank	human	model	54_36p	rna	DEL	0.001	-
ERCC6L2	375748	genome.wustl.edu	37	9	98775290	98775310	+	In_Frame_Del	DEL	TGATGAGAGTCTTAGTAAACT	TGATGAGAGTCTTAGTAAACT	-			TCGA-61-1913-01A-01W-0639-09	TCGA-61-1913-11A-01W-0640-09	TGATGAGAGTCTTAGTAAACT	TGATGAGAGTCTTAGTAAACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	d16824ed-060b-4af6-9d82-6923219decee	2e7ad573-09da-488a-9dbc-38d19a37e456	g.chr9:98775290_98775310delTGATGAGAGTCTTAGTAAACT	ENST00000407474.3	+	4	1914_1934	c.1401_1421delTGATGAGAGTCTTAGTAAACT	c.(1399-1422)aatgatgagagtcttagtaaactc>aac	p.DESLSKL468del				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1498					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										ATGAGCAGAATGATGAGAGTCTTAGTAAACTCACAGACTTG	0.425																																																0			9																																								97815131	SO:0001651	inframe_deletion	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.1401_1421delTGATGAGAGTCTTAGTAAACT	9.37:g.98775290_98775310delTGATGAGAGTCTTAGTAAACT	ENSP00000384365:p.Asp468_Leu474del		97815111	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	In_Frame_Del	DEL	NULL	p.DESLSKL397in_frame_del	ENST00000407474.3	37	c.1188_1208		9																																																																																			(deletion:cds_exon[97814328,97815306])	NULL		0.425	ERCC6L2-201	KNOWN	basic	protein_coding	uc010msa.1	protein_coding		TGATGAGAGTCTTAGTAAACT	NM_001010895		97815131	+1	no_errors	ENST00000407474	ensembl	human	known	54_36p	in_frame_del	DEL	0.996:0.984:0.895:0.599:0.999:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
