#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-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								8822	SO:0001628	intergenic_variant	4508																															Unknown.37:g.0T>C			8822		Missense_Mutation	SNP	HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A	p.S99P		37	c.295		MT																																																																																			-	HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A	0	0					MT-ATP6			T			8822	+1	no_errors	ENST00000361899	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrUnknown:0G>C								None (None upstream) : None (None downstream)																								0.0																																																0			NT_113889																																								38826	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>C			38826		Missense_Mutation	SNP	HMMPfam_Tektin	p.P213A		37	c.637		NT_113889																																																																																			-	NULL	0	0					ENSG00000215615			G			38826	-1	no_stop_codon	ENST00000400681	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	7	106193	106193	+	IGR	SNP	G	G	A	rs147876258	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:106193G>A								AC093627.8 (25775 upstream) : AC093627.9 (29659 downstream)																							cagcctgggcgacagagcgag	0.488													.|||	165	0.0329473	0.121	0.0072	5008	,	,		17661	0.0		0.0	False		,,,				2504	0.0															0			7																																								201276	SO:0001628	intergenic_variant	0																															7.37:g.106193G>A			201276		RNA	SNP	-	NULL		37	NULL		7																																																																																			-	-	0	0.488					LOC100131675			G			201276	+1	pseudogene	XR_037943	genbank	human	model	54_36p	rna	SNP	0.000	A
CTD-2012J19.3	0	genome.wustl.edu	37	5	1598162	1598162	+	lincRNA	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr5:1598162C>A	ENST00000605200.1	+	0	622				RP11-43F13.1_ENST00000507841.1_RNA																							tgctgtgcagcaagcacatag	0.423																																																0			5																																								1651162			728613																															5.37:g.1598162C>A			1651162		RNA	SNP	-	NULL	ENST00000605200.1	37	NULL		5																																																																																			-	-		0.423	CTD-2012J19.3-001	KNOWN	basic	lincRNA	LOC728613	lincRNA	OTTHUMT00000469651.1	C			1651162	-1	pseudogene	NR_003713	genbank	human	validated	54_36p	rna	SNP	0.954	A
MEIOB	254528	genome.wustl.edu	37	16	1889263	1889263	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:1889263C>A	ENST00000397344.3	-	12	1405	c.1211G>T	c.(1210-1212)gGc>gTc	p.G404V	LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000412554.2_Missense_Mutation_p.G404V|MEIOB_ENST00000470044.1_Missense_Mutation_p.G197V|MEIOB_ENST00000325962.3_Missense_Mutation_p.G404V|FAHD1_ENST00000382666.4_3'UTR|MEIOB_ENST00000452149.2_Missense_Mutation_p.G404V|FAHD1_ENST00000382668.4_Splice_Site_p.P213T	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	404					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										TACCGTGCAGCCCAAAGTCTC	0.388																																																0			16											69.0	65.0	67.0					16																	1889263		2199	4300	6499	1829264	SO:0001583	missense	254528			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1211G>T	16.37:g.1889263C>A	ENSP00000380504:p.Gly404Val		1829264	B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	NULL	p.G160V	ENST00000397344.3	37	c.479	CCDS10449.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.97|18.97	3.736747|3.736747	0.69304|0.69304	.|.	.|.	ENSG00000162039|ENSG00000180185	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344|ENST00000382668	T;T;T;T|D	0.12879|0.94723	2.64;2.64;2.64;2.64|-3.5	5.97|5.97	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89312|0.89312	0.6679|0.6679	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|B	0.71674|0.12013	0.998;0.998|0.005	D;D|B	0.72075|0.10450	0.976;0.964|0.005	D|D	0.84046|0.84046	0.0367|0.0367	9|7	0.87932|.	D|.	0|.	.|.	9.857|9.857	0.41092|0.41092	0.0:0.7878:0.1383:0.0739|0.0:0.7878:0.1383:0.0739	.|.	404;404|213	C9J0S1;Q8N635|Q6P587-2	.;CP073_HUMAN|.	V|T	404|213	ENSP00000390778:G404V;ENSP00000391033:G404V;ENSP00000314484:G404V;ENSP00000380504:G404V|ENSP00000372114:P213T	ENSP00000314484:G404V|.	G|P	-|+	2|1	0|0	C16orf73|FAHD1	1829264|1829264	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.990000|1.990000	0.40717|0.40717	1.534000|1.534000	0.49203|0.49203	0.585000|0.585000	0.79938|0.79938	GGC|CCC	-	NULL		0.388	MEIOB-001	KNOWN	basic|CCDS	protein_coding	C16orf73	protein_coding	OTTHUMT00000250580.1	C	NM_152764		1829264	-1	no_errors	NM_152764	genbank	human	validated	54_36p	missense	SNP	1.000	A
ACTRT2	140625	genome.wustl.edu	37	1	2938408	2938408	+	Missense_Mutation	SNP	A	A	T	rs4013154	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:2938408A>T	ENST00000378404.2	+	1	363	c.158A>T	c.(157-159)cAg>cTg	p.Q53L		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	53						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTAC	0.612																																																0			1											42.0	37.0	39.0					1																	2938408		2202	4277	6479	2928268	SO:0001583	missense	140625			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.158A>T	1.37:g.2938408A>T	ENSP00000367658:p.Gln53Leu		2928268	B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE	p.Q53L	ENST00000378404.2	37	c.158	CCDS45.1	1	.	.	.	.	.	.	.	.	.	.	A	9.998	1.232676	0.22626	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.94537	-3.45	4.88	3.75	0.43078	.	0.292074	0.24907	N	0.034656	D	0.90604	0.7054	L	0.52573	1.65	0.47698	D	0.999496	B	0.23650	0.089	B	0.22152	0.038	D	0.85972	0.1477	10	0.87932	D	0	.	5.7063	0.17911	0.7648:0.0:0.0857:0.1495	.	53	Q8TDY3	ACTT2_HUMAN	L	53	ENSP00000367658:Q53L	ENSP00000367658:Q53L	Q	+	2	0	ACTRT2	2928268	1.000000	0.71417	0.927000	0.36925	0.223000	0.24884	3.969000	0.56816	0.705000	0.31890	-0.411000	0.06167	CAG	-	HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268		0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	protein_coding	OTTHUMT00000001331.1	A	NM_080431		2928268	+1	no_errors	NM_080431	genbank	human	reviewed	54_36p	missense	SNP	0.991	T
FAM86EP	348926	genome.wustl.edu	37	4	3944656	3944656	+	RNA	SNP	C	C	T	rs187786047	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr4:3944656C>T	ENST00000313946.8	-	0	1675									family with sequence similarity 86, member E, pseudogene																		GCAGCTGCAGCGGGCTTGGCT	0.478													.|||	165	0.0329473	0.1203	0.0086	5008	,	,		17819	0.0		0.0	False		,,,				2504	0.0															0			4																																								3995586			728263					4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3944656C>T			3995586		RNA	SNP	-	NULL	ENST00000313946.8	37	NULL		4																																																																																			-	-		0.478	FAM86EP-002	KNOWN	basic	processed_transcript	LOC728263	pseudogene	OTTHUMT00000357822.1	C			3995586	+1	pseudogene	XR_015245	genbank	human	model	54_36p	rna	SNP	0.000	T
OR56B3P	401675	genome.wustl.edu	37	11	6149925	6149925	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:6149925G>T	ENST00000316517.2	+	1	86	c.86G>T	c.(85-87)tGg>tTg	p.W29L	RP11-290F24.3_ENST00000529961.1_RNA					olfactory receptor, family 56, subfamily B, member 3 pseudogene																		ATTCATGAGTGGCAGCACTGG	0.458																																																0			11																																								6106501	SO:0001583	missense	0					11p15.4	2013-09-24			ENSG00000180913	ENSG00000180913		"""GPCR / Class A : Olfactory receptors"""	15247	pseudogene	pseudogene							Standard	NG_004390		Approved					ENST00000316517.2:c.86G>T	11.37:g.6149925G>T	ENSP00000321173:p.Trp29Leu		6106501		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1	p.W29L	ENST00000316517.2	37	c.86		11	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400913	0.42613	.	.	ENSG00000180913	ENST00000316517	T	0.31769	1.48	5.08	4.08	0.47627	.	0.319242	0.23046	N	0.052557	T	0.15262	0.0368	.	.	.	.	.	.	.	.	.	.	.	.	T	0.18272	-1.0342	6	0.02654	T	1	-2.0674	11.1404	0.48400	0.0:0.0:0.5473:0.4527	.	.	.	.	L	29	ENSP00000321173:W29L	ENSP00000321173:W29L	W	+	2	0	AC111177.1	6106501	1.000000	0.71417	0.794000	0.32065	0.949000	0.60115	2.195000	0.42677	1.059000	0.40554	0.552000	0.68991	TGG	-	superfamily_SSF81321		0.458	OR56B3P-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000180913	protein_coding		G			6106501	+1	no_errors	ENST00000316517	ensembl	human	known	54_36p	missense	SNP	0.824	T
PAPD7	11044	genome.wustl.edu	37	5	6743882	6743882	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr5:6743882G>A	ENST00000230859.6	+	6	553	c.424G>A	c.(424-426)Gac>Aac	p.D142N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	372					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGCAGAGGGACCTGAATGA	0.343																																					NSCLC(7;212 333 5667 23379 46547)											0			5											144.0	148.0	146.0					5																	6743882		2203	4300	6503	6796882	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.424G>A	5.37:g.6743882G>A	ENSP00000230859:p.Asp142Asn		6796882	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc	p.D142N	ENST00000230859.6	37	c.424	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094376	0.76870	.	.	ENSG00000112941	ENST00000230859	T	0.54675	0.56	4.97	4.97	0.65823	.	0.099127	0.64402	D	0.000002	T	0.43722	0.1260	N	0.26130	0.795	0.80722	D	1	B;B	0.33212	0.402;0.402	B;B	0.33846	0.119;0.171	T	0.37033	-0.9723	10	0.36615	T	0.2	1.1986	18.6326	0.91366	0.0:0.0:1.0:0.0	.	142;142	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	142	ENSP00000230859:D142N	ENSP00000230859:D142N	D	+	1	0	PAPD7	6796882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.170000	0.94795	2.461000	0.83175	0.655000	0.94253	GAC	-	superfamily_PAP/OAS1 substrate-binding domain		0.343	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLS	protein_coding	OTTHUMT00000206904.1	G	NM_006999		6796882	+1	no_errors	NM_006999	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CHD3	1107	genome.wustl.edu	37	17	7812541	7812541	+	Silent	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:7812541C>G	ENST00000330494.7	+	37	5625	c.5475C>G	c.(5473-5475)ccC>ccG	p.P1825P	CHD3_ENST00000358181.4_Silent_p.P1791P|CHD3_ENST00000380358.4_Silent_p.P1884P|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1825	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGCGCACCCCGCCATGGCCC	0.706																																																0			17											5.0	5.0	5.0					17																	7812541		2049	3992	6041	7753266	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5475C>G	17.37:g.7812541C>G			7753266	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2	p.P1870	ENST00000330494.7	37	c.5610	CCDS32554.1	17																																																																																			-	HMMPfam_CHDCT2		0.706	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7753266	+1	no_errors	NM_001005271	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
TMEM9B	56674	genome.wustl.edu	37	11	8969996	8969996	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:8969996G>T	ENST00000534025.1	-	5	927	c.468C>A	c.(466-468)caC>caA	p.H156Q	TMEM9B_ENST00000525069.1_Missense_Mutation_p.H82Q|TMEM9B_ENST00000309134.5_Missense_Mutation_p.H82Q	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	156					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		CTAGCACATCGTGTGCATTTG	0.502																																																0			11											87.0	79.0	82.0					11																	8969996		2201	4296	6497	8926572	SO:0001583	missense	56674			AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 15"""	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.468C>A	11.37:g.8969996G>T	ENSP00000433361:p.His156Gln		8926572	Q7Z649	Missense_Mutation	SNP	HMMPfam_Tmemb_9	p.H156Q	ENST00000534025.1	37	c.468	CCDS7796.1	11	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662065	0.29515	.	.	ENSG00000175348	ENST00000309134;ENST00000534025;ENST00000525069	.	.	.	5.86	-10.1	0.00402	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.44542	1.39	0.80722	D	1	D	0.60160	0.987	D	0.76575	0.988	T	0.82311	-0.0520	9	0.12430	T	0.62	.	18.2932	0.90137	0.4137:0.0:0.5863:0.0	.	156	Q9NQ34	TMM9B_HUMAN	Q	82;156;82	.	ENSP00000311842:H82Q	H	-	3	2	TMEM9B	8926572	0.001000	0.12720	0.734000	0.30879	0.967000	0.64934	-1.175000	0.03102	-1.689000	0.01434	-1.105000	0.02106	CAC	-	HMMPfam_Tmemb_9		0.502	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM9B	protein_coding	OTTHUMT00000385722.1	G			8926572	-1	no_errors	NM_020644	genbank	human	provisional	54_36p	missense	SNP	0.999	T
USP17L9P	391627	genome.wustl.edu	37	4	9361466	9361466	+	IGR	SNP	G	G	A	rs149069857		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr4:9361466G>A								USP17L29 (4510 upstream) : USP17L30 (3388 downstream)																							TTCAACGTCAGAAAAGTCGAA	0.468																																																0			4											1.0	1.0	1.0					4																	9361466		4	61	65	8970564	SO:0001628	intergenic_variant	0																															4.37:g.9361466G>A			8970564		Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.R453K		37	c.1358		4																																																																																			-	NULL	0	0.468					USP17			G			8970564	+1	pseudogene	NM_001105662	genbank	human	provisional	54_36p	missense	SNP	0.015	A
LPIN1	23175	genome.wustl.edu	37	2	11905847	11905847	+	Silent	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:11905847C>G	ENST00000256720.2	+	2	273	c.180C>G	c.(178-180)tcC>tcG	p.S60S	MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396099.1_Silent_p.S66S|LPIN1_ENST00000425416.2_Silent_p.S66S|LPIN1_ENST00000449576.2_Silent_p.S109S|LPIN1_ENST00000396098.1_Silent_p.S66S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	60	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCCTGCGCTCCCGAGAGAAAG	0.572																																																0			2											77.0	71.0	73.0					2																	11905847		2203	4300	6503	11823298	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.180C>G	2.37:g.11905847C>G			11823298	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	HMMPfam_Lipin_N,superfamily_SSF56784,HMMPfam_LNS2,HMMSmart_LNS2	p.S60	ENST00000256720.2	37	c.180	CCDS1682.1	2																																																																																			-	HMMPfam_Lipin_N		0.572	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	protein_coding	OTTHUMT00000239296.3	C	NM_145693		11823298	+1	no_errors	NM_145693	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
CYP4F24P	388514	genome.wustl.edu	37	19	15871065	15871065	+	lincRNA	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr19:15871065C>A	ENST00000595525.1	+	0	0																											ACTGCAAGCCCGCGTTCAGGG	0.622																																																0			19																																								15732065			388514																															19.37:g.15871065C>A			15732065		RNA	SNP	-	NULL	ENST00000595525.1	37	NULL		19																																																																																			-	-		0.622	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	LOC388514	lincRNA	OTTHUMT00000472008.1	C			15732065	-1	no_errors	XR_017598	genbank	human	model	54_36p	rna	SNP	0.812	A
RPGRIP1	57096	genome.wustl.edu	37	14	21794271	21794271	+	Silent	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:21794271C>A	ENST00000400017.2	+	16	2649	c.2649C>A	c.(2647-2649)ggC>ggA	p.G883G	RPGRIP1_ENST00000557771.1_Silent_p.G845G|RPGRIP1_ENST00000307974.4_Silent_p.G242G|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Silent_p.G883G|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	883	C2.		G -> D. {ECO:0000269|PubMed:21224891}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TAGAGCCTGGCTCGTATCTTG	0.488																																																0			14											88.0	84.0	85.0					14																	21794271		1901	4109	6010	20864111	SO:0001819	synonymous_variant	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2649C>A	14.37:g.21794271C>A			20864111	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2	p.G883	ENST00000400017.2	37	c.2649	CCDS45080.1	14																																																																																			-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2		0.488	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	protein_coding	OTTHUMT00000410258.1	C	NM_020366		20864111	+1	no_errors	NM_020366	genbank	human	reviewed	54_36p	silent	SNP	0.838	A
MKRN3	7681	genome.wustl.edu	37	15	23811154	23811154	+	Silent	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr15:23811154C>T	ENST00000314520.3	+	1	701	c.225C>T	c.(223-225)gcC>gcT	p.A75A	MKRN3_ENST00000568252.1_Silent_p.A75A|MKRN3_ENST00000564592.1_Silent_p.A75A|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	75					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGAGGCCTGCCCCAGCCTCAG	0.627																																																0			15											29.0	30.0	30.0					15																	23811154		2203	4300	6503	21362247	SO:0001819	synonymous_variant	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.225C>T	15.37:g.23811154C>T			21362247		Silent	SNP	HMMSmart_ZnF_C3H1,HMMPfam_zf-CCCH,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1	p.A75	ENST00000314520.3	37	c.225	CCDS10013.1	15																																																																																			-	NULL		0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	protein_coding	OTTHUMT00000251225.1	C	NM_005664		21362247	+1	no_errors	NM_005664	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
CD93	22918	genome.wustl.edu	37	20	23066492	23066492	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr20:23066492C>A	ENST00000246006.4	-	1	485	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCTGAAGCCCTTCAGCGG	0.632																																																0			20											17.0	16.0	17.0					20																	23066492		2199	4291	6490	23014492	SO:0001583	missense	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.338G>T	20.37:g.23066492C>A	ENSP00000246006:p.Gly113Val		23014492	O00274	Missense_Mutation	SNP	PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C,HMMSmart_EGF,superfamily_SSF57196,PatternScan_EGF_2,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL	p.G113V	ENST00000246006.4	37	c.338	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776171	0.90195	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.18016	2.24	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000012	T	0.47266	0.1436	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48186	-0.9057	10	0.87932	D	0	-46.8945	18.7151	0.91672	0.0:1.0:0.0:0.0	.	113	Q9NPY3	C1QR1_HUMAN	V	113	ENSP00000246006:G113V	ENSP00000246006:G113V	G	-	2	0	CD93	23014492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.244000	0.65400	2.718000	0.92993	0.655000	0.94253	GGC	-	HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	protein_coding	OTTHUMT00000078312.2	C	NM_012072		23014492	-1	no_errors	NM_012072	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ADAM7	8756	genome.wustl.edu	37	8	24346763	24346763	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:24346763T>C	ENST00000175238.6	+	12	1266	c.1183T>C	c.(1183-1185)Ttt>Ctt	p.F395L	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.F395L|ADAM7_ENST00000520720.1_Missense_Mutation_p.F167L	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	395						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAACATTCCATTTCCTTACAA	0.403																																																0			8											148.0	124.0	132.0					8																	24346763		2203	4300	6503	24402653	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1183T>C	8.37:g.24346763T>C	ENSP00000175238:p.Phe395Leu		24402653	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR"	p.F395L	ENST00000175238.6	37	c.1183	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	T	2.221	-0.378401	0.05000	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.49720	1.67;1.67;0.77	5.52	-1.85	0.07784	Metallopeptidase, catalytic domain (1);	0.941369	0.08875	N	0.880919	T	0.16214	0.0390	N	0.01809	-0.71	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.28202	-1.0051	10	0.09843	T	0.71	.	5.6574	0.17650	0.1361:0.4129:0.0:0.451	.	167;395	E5RK87;Q9H2U9	.;ADAM7_HUMAN	L	395;395;167;210	ENSP00000175238:F395L;ENSP00000370166:F395L;ENSP00000430400:F167L	ENSP00000175238:F395L	F	+	1	0	ADAM7	24402653	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.156000	0.10100	-0.193000	0.10415	0.533000	0.62120	TTT	-	NULL		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	protein_coding	OTTHUMT00000215150.1	T	NM_003817		24402653	+1	no_errors	NM_003817	genbank	human	validated	54_36p	missense	SNP	0.000	C
HIST1H4C	8364	genome.wustl.edu	37	6	26104299	26104299	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:26104299G>C	ENST00000377803.2	+	1	196	c.124G>C	c.(124-126)Ggt>Cgt	p.G42R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	42					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GGCTCGGCGCGGTGGCGTCAA	0.532																																																0			6											64.0	63.0	63.0					6																	26104299		2203	4300	6503	26212278	SO:0001583	missense	8364			X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.124G>C	6.37:g.26104299G>C	ENSP00000367034:p.Gly42Arg		26212278	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803	p.G42R	ENST00000377803.2	37	c.124	CCDS4583.1	6	.	.	.	.	.	.	.	.	.	.	.	18.64	3.667879	0.67814	.	.	ENSG00000197061	ENST00000377803	T	0.68181	-0.31	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78112	-0.2331	7	0.66056	D	0.02	.	16.8752	0.86050	0.0:0.0:1.0:0.0	.	.	.	.	R	42	ENSP00000367034:G42R	ENSP00000367034:G42R	G	+	1	0	HIST1H4C	26212278	1.000000	0.71417	0.839000	0.33178	0.015000	0.08874	9.645000	0.98471	2.538000	0.85594	0.561000	0.74099	GGT	-	superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803		0.532	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4C	protein_coding	OTTHUMT00000040092.2	G	NM_003542		26212278	+1	no_errors	NM_003542	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RFPL1	5988	genome.wustl.edu	37	22	29835552	29835552	+	Intron	SNP	G	G	T	rs6006149	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:29835552G>T	ENST00000354373.2	+	1	582				RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1								zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						acctggggggggcggagcttg	0.517													-|||	1034	0.20647	0.2292	0.1441	5008	,	,		16183	0.3472		0.0159	False		,,,				2504	0.271															0			22																																								28165552	SO:0001627	intron_variant	10740			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.373+399G>T	22.37:g.29835552G>T			28165552	Q6IC06|Q9UJ97	RNA	SNP	-	NULL	ENST00000354373.2	37	NULL	CCDS13857.2	22																																																																																			-	-		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL1S	protein_coding	OTTHUMT00000318719.1	G	NM_021026		28165552	-1	no_errors	NR_002727	genbank	human	validated	54_36p	rna	SNP	0.002	T
PPP1CB	5500	genome.wustl.edu	37	2	29004706	29004706	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:29004706G>T	ENST00000395366.2	+	4	790	c.518G>T	c.(517-519)gGa>gTa	p.G173V	PPP1CB_ENST00000358506.2_Missense_Mutation_p.G173V|PPP1CB_ENST00000296122.6_Missense_Mutation_p.G173V	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	173					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTTGTCATGGAGGTAGACTA	0.343																																																0			2											103.0	101.0	101.0					2																	29004706		2203	4300	6503	28858210	SO:0001583	missense	5500				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.518G>T	2.37:g.29004706G>T	ENSP00000378769:p.Gly173Val		28858210	B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE	p.G173V	ENST00000395366.2	37	c.518	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.141289	0.94560	.	.	ENSG00000213639	ENST00000455580;ENST00000358506;ENST00000296122;ENST00000395366;ENST00000418910	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.77	5.77	0.91146	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	H	0.99993	5.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87095	0.2175	10	0.87932	D	0	-11.5698	20.3626	0.98863	0.0:0.0:1.0:0.0	.	145;173	B4E163;P62140	.;PP1B_HUMAN	V	145;173;173;173;48	ENSP00000390715:G145V;ENSP00000351298:G173V;ENSP00000296122:G173V;ENSP00000378769:G173V;ENSP00000388056:G48V	ENSP00000296122:G173V	G	+	2	0	PPP1CB	28858210	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.779000	0.99018	2.885000	0.99019	0.655000	0.94253	GGA	-	superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	protein_coding	OTTHUMT00000324841.1	G			28858210	+1	no_errors	NM_002709	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LTN1	26046	genome.wustl.edu	37	21	30331873	30331873	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr21:30331873C>T	ENST00000361371.5	-	13	2579	c.2500G>A	c.(2500-2502)Gcg>Acg	p.A834T	LTN1_ENST00000389194.2_Missense_Mutation_p.A880T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	834					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CATCCTTTCGCTGAGCTGAAA	0.353																																																0			21											100.0	95.0	97.0					21																	30331873		2203	4300	6503	29253744	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2500G>A	21.37:g.30331873C>T	ENSP00000354977:p.Ala834Thr		29253744	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4	p.A834T	ENST00000361371.5	37	c.2500		21	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745711	0.49151	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.18016	2.24;2.25	5.55	3.71	0.42584	.	0.062767	0.64402	D	0.000006	T	0.07773	0.0195	N	0.08118	0	0.28537	N	0.912288	B	0.23937	0.094	B	0.24541	0.054	T	0.29397	-1.0013	10	0.11794	T	0.64	.	10.1733	0.42924	0.0:0.7933:0.0:0.2067	.	834	O94822	LTN1_HUMAN	T	880;834	ENSP00000373846:A880T;ENSP00000354977:A834T	ENSP00000354977:A834T	A	-	1	0	LTN1	29253744	0.989000	0.36119	0.908000	0.35775	0.954000	0.61252	1.600000	0.36762	1.578000	0.49821	0.655000	0.94253	GCG	-	superfamily_ARM repeat		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	RNF160	protein_coding	OTTHUMT00000472108.1	C	NM_015565		29253744	-1	no_errors	NM_015565	genbank	human	validated	54_36p	missense	SNP	0.678	T
Unknown	0	genome.wustl.edu	37	16	29576786	29576786	+	IGR	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:29576786C>A								snoU13 (26100 upstream) : MIR3680-2 (33713 downstream)																							GACTTCCGACCATAAGTATTT	0.443																																																0			16																																								29484287	SO:0001628	intergenic_variant	0																															16.37:g.29576786C>A			29484287		Missense_Mutation	SNP	NULL	p.G96C		37	c.286		16	.	.	.	.	.	.	.	.	.	.	C	4.494	0.091560	0.08632	.	.	ENSG00000205534	ENST00000447140	.	.	.	2.31	2.31	0.28768	.	0.000000	0.56097	U	0.000031	T	0.73241	0.3562	.	.	.	.	.	.	D	0.89917	1.0	D	0.80764	0.994	T	0.82220	-0.0565	7	0.87932	D	0	.	12.0558	0.53533	0.0:1.0:0.0:0.0	.	96	Q6P435	SMG1L_HUMAN	C	78	.	ENSP00000397618:G78C	G	-	1	0	AC009086.1	29484287	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	5.344000	0.65981	1.312000	0.45043	0.134000	0.15878	GGT	-	NULL	0	0.443					ENSG00000205534			C			29484287	-1	no_errors	ENST00000380594	ensembl	human	known	54_36p	missense	SNP	1.000	A
MOG	4340	genome.wustl.edu	37	6	29641480	29641480	+	IGR	SNP	A	A	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:29641480A>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Silent_p.T136T|ZFP57_ENST00000376883.1_Silent_p.T116T|ZFP57_ENST00000376881.3_Silent_p.T116T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGTCATCACTAGTCCCCTCAT	0.517																																																0			6											146.0	158.0	154.0					6																	29641480		1225	2518	3743	29749459	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641480A>T			29749459	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.T116	ENST00000376917.3	37	c.348	CCDS34370.1	6																																																																																			-	NULL		0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	protein_coding	OTTHUMT00000076160.3	A	NM_002433		29749459	-1	no_errors	NM_001109809	genbank	human	inferred	54_36p	silent	SNP	0.002	T
TAOK2	9344	genome.wustl.edu	37	16	29994521	29994521	+	Silent	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:29994521C>T	ENST00000308893.4	+	12	2171	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	TAOK2_ENST00000416441.2_Silent_p.D203D|TAOK2_ENST00000543033.1_Silent_p.D376D|TAOK2_ENST00000279394.3_Silent_p.D376D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	376					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGCCTCAGACAACgaggaag	0.612																																																0			16											53.0	57.0	56.0					16																	29994521		2197	4300	6497	29902022	SO:0001819	synonymous_variant	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1128C>T	16.37:g.29994521C>T			29902022	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.D376	ENST00000308893.4	37	c.1128	CCDS10663.1	16																																																																																			-	superfamily_Protein kinase-like (PK-like)		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	protein_coding	OTTHUMT00000255152.2	C	NM_016151		29902022	+1	no_errors	NM_016151	genbank	human	validated	54_36p	silent	SNP	0.998	T
SFI1	9814	genome.wustl.edu	37	22	32007135	32007135	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:32007135T>C	ENST00000400288.2	+	23	2366	c.2261T>C	c.(2260-2262)cTg>cCg	p.L754P	SFI1_ENST00000443011.1_Missense_Mutation_p.L601P|SFI1_ENST00000400289.1_Missense_Mutation_p.L672P|SFI1_ENST00000414585.1_Missense_Mutation_p.L601P|SFI1_ENST00000443326.1_Missense_Mutation_p.L672P|SFI1_ENST00000540643.1_Missense_Mutation_p.L699P|SFI1_ENST00000432498.1_Missense_Mutation_p.L723P	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	754					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTAGGCTGTCTGCGGACCTGG	0.577																																																0			22											80.0	85.0	84.0					22																	32007135		2163	4272	6435	30337135	SO:0001583	missense	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2261T>C	22.37:g.32007135T>C	ENSP00000383145:p.Leu754Pro		30337135	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	NULL	p.L754P	ENST00000400288.2	37	c.2261	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924613	0.52653	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.32515	1.92;1.92;1.84;1.83;2.03;1.84;2.0;1.45	5.41	5.41	0.78517	.	0.140206	0.47455	D	0.000236	T	0.34919	0.0914	N	0.08118	0	0.36008	D	0.837854	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.986;0.961;0.996;0.982;0.999	T	0.53975	-0.8362	10	0.87932	D	0	.	12.8054	0.57610	0.0:0.0:0.0:1.0	.	699;660;672;723;754	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	P	723;699;672;601;601;672;754;337	ENSP00000402679:L723P;ENSP00000443025:L699P;ENSP00000416469:L672P;ENSP00000397148:L601P;ENSP00000401199:L601P;ENSP00000383146:L672P;ENSP00000383145:L754P;ENSP00000398871:L337P	ENSP00000383145:L754P	L	+	2	0	SFI1	30337135	0.189000	0.23263	0.475000	0.27278	0.592000	0.36648	4.091000	0.57700	2.055000	0.61198	0.459000	0.35465	CTG	-	NULL		0.577	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	protein_coding	OTTHUMT00000337180.3	T	NM_014775		30337135	+1	no_errors	NM_001007467	genbank	human	validated	54_36p	missense	SNP	0.284	C
Unknown	0	genome.wustl.edu	37	15	32676615	32676615	+	IGR	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr15:32676615T>A								RP11-717I24.1 (16630 upstream) : GOLGA8K (8367 downstream)																							TTAACAAGATTCCCTGTGAGT	0.562																																																0			15																																								30463907	SO:0001628	intergenic_variant	644153																															15.37:g.32676615T>A			30463907		Silent	SNP	HMMPfam_GED,HMMSmart_SM00302	p.I37		37	c.111		15																																																																																			-	NULL	0	0.562					LOC644153			T			30463907	+1	pseudogene	XM_001718804	genbank	human	model	54_36p	silent	SNP	0.999	A
RFPL3	10738	genome.wustl.edu	37	22	32756391	32756391	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:32756391A>C	ENST00000249007.4	+	2	731	c.526A>C	c.(526-528)Acc>Ccc	p.T176P	RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Missense_Mutation_p.T147P|RFPL3_ENST00000382088.3_Missense_Mutation_p.T147P|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	176	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCCTCGCTTTACCTGTGGCCG	0.572																																																0			22											78.0	78.0	78.0					22																	32756391		2203	4298	6501	31086391	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.526A>C	22.37:g.32756391A>C	ENSP00000249007:p.Thr176Pro		31086391	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	PatternScan_ZF_RING_1,superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.T176P	ENST00000249007.4	37	c.526	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	A	9.499	1.102775	0.20632	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.63744	-0.06;-0.06;-0.06	0.664	0.664	0.17890	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.63094	0.2482	M	0.85710	2.77	0.80722	D	1	B	0.33583	0.418	B	0.37692	0.256	T	0.63673	-0.6584	9	0.66056	D	0.02	.	5.5845	0.17267	0.9999:0.0:1.0E-4:0.0	.	176	O75679	RFPL3_HUMAN	P	147;176;147	ENSP00000380609:T147P;ENSP00000249007:T176P;ENSP00000371520:T147P	ENSP00000249007:T176P	T	+	1	0	RFPL3	31086391	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-1.429000	0.02437	0.523000	0.28482	0.163000	0.16589	ACC	-	HMMSmart_PRY		0.572	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	protein_coding	OTTHUMT00000075172.3	A	NM_006604		31086391	+1	no_errors	NM_001098535	genbank	human	validated	54_36p	missense	SNP	0.996	C
SYNJ1	8867	genome.wustl.edu	37	21	34038326	34038326	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr21:34038326G>A	ENST00000322229.7	-	16	2071	c.2072C>T	c.(2071-2073)gCt>gTt	p.A691V	SYNJ1_ENST00000382499.2_Missense_Mutation_p.A730V|SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730V|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686V			O43426	SYNJ1_HUMAN	synaptojanin 1	691	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGCCCTGCAGCAAAGTGGCT	0.433																																																0			21											79.0	63.0	69.0					21																	34038326		2203	4300	6503	32960197	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2072C>T	21.37:g.34038326G>A	ENSP00000322234:p.Ala691Val		32960197	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD	p.A691V	ENST00000322229.7	37	c.2072	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	G	35	5.505322	0.96371	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	6.04	5.14	0.70334	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.202033	0.51477	D	0.000091	D	0.91656	0.7363	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;1.0;0.996;0.998	D	0.93469	0.6817	10	0.87932	D	0	.	17.1494	0.86774	0.0:0.1264:0.8736:0.0	.	686;730;691;691;691	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	686;691;730;730;691;686	ENSP00000371931:A686V;ENSP00000349903:A691V;ENSP00000371939:A730V;ENSP00000409667:A730V;ENSP00000322234:A691V;ENSP00000413649:A686V	ENSP00000322234:A691V	A	-	2	0	SYNJ1	32960197	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	1.527000	0.49086	0.561000	0.74099	GCT	-	superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos		0.433	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	protein_coding		G			32960197	-1	no_errors	NM_003895	genbank	human	validated	54_36p	missense	SNP	1.000	A
CSF2RB	1439	genome.wustl.edu	37	22	37334245	37334245	+	Missense_Mutation	SNP	C	C	G	rs544020050	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr22:37334245C>G	ENST00000403662.3	+	14	2617	c.2395C>G	c.(2395-2397)Cgc>Ggc	p.R799G	CSF2RB_ENST00000406230.1_Missense_Mutation_p.R805G|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R746G|CSF2RB_ENST00000262825.5_Missense_Mutation_p.R805G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	799					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGGGGAACGCCCGGCAGA	0.657																																																0			22											62.0	65.0	64.0					22																	37334245		2203	4300	6503	35664191	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2395C>G	22.37:g.37334245C>G	ENSP00000384053:p.Arg799Gly		35664191	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_HEMATOPO_REC_S_F1	p.R799G	ENST00000403662.3	37	c.2395	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348398	0.24426	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91631	-2.36;-2.87;-2.87;-2.88	5.21	0.302	0.15786	.	0.870917	0.09707	N	0.766211	T	0.80144	0.4569	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.19391	0.025;0.011	T	0.68243	-0.5460	10	0.34782	T	0.22	-7.4368	4.2312	0.10604	0.1483:0.4755:0.2892:0.0869	.	805;799	P32927-2;P32927	.;IL3RB_HUMAN	G	799;799;805;805;746	ENSP00000384053:R799G;ENSP00000262825:R805G;ENSP00000385271:R805G;ENSP00000440003:R746G	ENSP00000262825:R805G	R	+	1	0	CSF2RB	35664191	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.226000	0.17776	0.538000	0.28769	0.400000	0.26472	CGC	-	NULL		0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	protein_coding	OTTHUMT00000318854.1	C	NM_000395		35664191	+1	no_errors	NM_000395	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
HSPD1P6	645548	genome.wustl.edu	37	3	36809501	36809501	+	RNA	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:36809501T>C	ENST00000424886.1	-	0	571									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		TCTTCAGTGATTATGACCAAA	0.438																																																0			3																																								36784505			645548					3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36809501T>C			36784505		RNA	SNP	-	NULL	ENST00000424886.1	37	NULL		3																																																																																			-	-		0.438	HSPD1P6-002	KNOWN	basic	processed_transcript	LOC645548	pseudogene	OTTHUMT00000341724.1	T	XR_017400		36784505	-1	pseudogene	XR_017400	genbank	human	model	54_36p	rna	SNP	1.000	C
LEPREL4	10609	genome.wustl.edu	37	17	39967250	39967250	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:39967250C>T	ENST00000355468.3	-	4	1118	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	FKBP10_ENST00000321562.4_5'Flank|LEPREL4_ENST00000393928.1_Missense_Mutation_p.G218R			Q92791	SC65_HUMAN	leprecan-like 4	218					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CGGAAATCCCCGCTGTTGTAG	0.657																																																0			17											47.0	47.0	47.0					17																	39967250		2203	4300	6503	37220776	SO:0001583	missense	10609			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.652G>A	17.37:g.39967250C>T	ENSP00000347649:p.Gly218Arg		37220776	Q53GI6|Q9H4F6	Missense_Mutation	SNP	NULL	p.G218R	ENST00000355468.3	37	c.652	CCDS11408.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.476372	0.96291	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.79247	-1.25;-1.25	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);	0.049421	0.85682	D	0.000000	D	0.87172	0.6111	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.977	D	0.86492	0.1798	10	0.48119	T	0.1	-42.647	18.3669	0.90394	0.0:1.0:0.0:0.0	.	207;218	B4DVZ5;Q92791	.;SC65_HUMAN	R	218;218;207	ENSP00000347649:G218R;ENSP00000377505:G218R	ENSP00000347649:G218R	G	-	1	0	LEPREL4	37220776	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.589000	0.82641	2.671000	0.90904	0.655000	0.94253	GGG	-	NULL		0.657	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SC65	protein_coding	OTTHUMT00000257439.2	C			37220776	-1	no_errors	NM_006455	genbank	human	validated	54_36p	missense	SNP	0.998	T
RNF5P1	286140	genome.wustl.edu	37	8	38458524	38458524	+	IGR	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:38458524T>C								RP11-675F6.4 (41986 upstream) : RP11-495O10.1 (99619 downstream)																							CAGCTTTACATACTGGACACT	0.582																																																0			8																																								38577681	SO:0001628	intergenic_variant	286140																															8.37:g.38458524T>C			38577681		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.582					RNF5P1			T			38577681	-1	pseudogene	NR_003129	genbank	human	provisional	54_36p	rna	SNP	0.998	C
CSRNP1	64651	genome.wustl.edu	37	3	39184569	39184569	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:39184569G>C	ENST00000273153.5	-	5	1924	c.1747C>G	c.(1747-1749)Cta>Gta	p.L583V	CSRNP1_ENST00000514182.1_Missense_Mutation_p.L583V	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	583					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCTCCATTAGAGATGCTGGG	0.562																																																0			3											61.0	65.0	63.0					3																	39184569		2203	4300	6503	39159573	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1747C>G	3.37:g.39184569G>C	ENSP00000273153:p.Leu583Val		39159573	Q69YY5	Missense_Mutation	SNP	NULL	p.L583V	ENST00000273153.5	37	c.1747	CCDS2682.1	3	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079697	0.55753	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.49139	0.79;0.79	4.26	1.41	0.22369	.	0.217617	0.29579	N	0.011749	T	0.26412	0.0645	L	0.34521	1.04	0.23401	N	0.99776	P	0.46142	0.873	B	0.40101	0.319	T	0.15350	-1.0440	10	0.09590	T	0.72	-13.3807	4.201	0.10466	0.2519:0.0:0.5818:0.1663	.	583	Q96S65	CSRN1_HUMAN	V	583;583;241	ENSP00000273153:L583V;ENSP00000422532:L583V	ENSP00000273153:L583V	L	-	1	2	CSRNP1	39159573	0.221000	0.23642	0.058000	0.19502	0.712000	0.41017	1.561000	0.36342	0.643000	0.30638	0.655000	0.94253	CTA	-	NULL		0.562	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AXUD1	protein_coding	OTTHUMT00000254061.1	G	NM_033027		39159573	-1	no_errors	NM_033027	genbank	human	reviewed	54_36p	missense	SNP	0.588	C
SETBP1	26040	genome.wustl.edu	37	18	42281420	42281420	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr18:42281420C>A	ENST00000282030.5	+	2	405	c.109C>A	c.(109-111)Cct>Act	p.P37T	SETBP1_ENST00000426838.4_Missense_Mutation_p.P37T	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	37						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCAGGAGAACCTTTGCTCTC	0.637									Schinzel-Giedion syndrome																																							0			18											25.0	29.0	28.0					18																	42281420		692	1591	2283	40535418	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.109C>A	18.37:g.42281420C>A	ENSP00000282030:p.Pro37Thr		40535418	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	NULL	p.P37T	ENST00000282030.5	37	c.109	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	0.461	-0.889285	0.02511	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.67345	-0.26	5.7	-0.107	0.13592	.	.	.	.	.	T	0.28400	0.0702	N	0.02011	-0.69	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.12156	0.0;0.007	T	0.30563	-0.9974	9	0.02654	T	1	.	3.0468	0.06157	0.443:0.3183:0.0931:0.1457	.	37;37	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	T	37	ENSP00000282030:P37T	ENSP00000282030:P37T	P	+	1	0	SETBP1	40535418	1.000000	0.71417	0.942000	0.38095	0.787000	0.44495	2.188000	0.42612	0.031000	0.15407	-0.282000	0.10007	CCT	-	NULL		0.637	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	protein_coding	OTTHUMT00000255854.4	C	NM_001130110		40535418	+1	no_errors	ENST00000383046	ensembl	human	known	54_36p	missense	SNP	0.996	A
USP9X	8239	genome.wustl.edu	37	X	41000577	41000577	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:41000577A>G	ENST00000324545.8	+	9	1687	c.1054A>G	c.(1054-1056)Atg>Gtg	p.M352V	USP9X_ENST00000378308.2_Missense_Mutation_p.M352V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	352					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATGGAAAGATGAATGCACT	0.338																																					Ovarian(172;1807 2695 35459 49286)											0			X											71.0	64.0	67.0					X																	41000577		2141	4270	6411	40885521	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1054A>G	X.37:g.41000577A>G	ENSP00000316357:p.Met352Val		40885521	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.M352V	ENST00000324545.8	37	c.1054	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846746	0.71603	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.76186	-1.0;-1.0	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	D	0.83497	0.0073	10	0.17369	T	0.5	.	15.0823	0.72125	1.0:0.0:0.0:0.0	.	352;352	Q93008-1;Q93008	.;USP9X_HUMAN	V	352	ENSP00000367558:M352V;ENSP00000316357:M352V	ENSP00000316357:M352V	M	+	1	0	USP9X	40885521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.962000	0.93254	1.944000	0.56390	0.486000	0.48141	ATG	-	NULL		0.338	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	A	NM_004652		40885521	+1	no_errors	NM_001039590	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PGC	5225	genome.wustl.edu	37	6	41708260	41708260	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:41708260G>T	ENST00000373025.3	-	6	798	c.736C>A	c.(736-738)Cag>Aag	p.Q246K		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	246					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TAGAGTTCCTGGGTGACAGGC	0.617																																																0			6											108.0	105.0	106.0					6																	41708260		2203	4300	6503	41816238	SO:0001583	missense	5225				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.736C>A	6.37:g.41708260G>T	ENSP00000362116:p.Gln246Lys		41816238	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE	p.Q246K	ENST00000373025.3	37	c.736	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	G	5.512	0.279502	0.10458	.	.	ENSG00000096088	ENST00000373025	T	0.27890	1.64	5.08	2.17	0.27698	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.620914	0.16642	N	0.205605	T	0.09158	0.0226	L	0.46741	1.465	0.21897	N	0.999485	P	0.35807	0.522	B	0.37943	0.261	T	0.30031	-0.9992	10	0.05351	T	0.99	.	11.5778	0.50873	0.0:0.2507:0.6193:0.13	.	246	P20142	PEPC_HUMAN	K	246	ENSP00000362116:Q246K	ENSP00000362116:Q246K	Q	-	1	0	PGC	41816238	0.003000	0.15002	0.945000	0.38365	0.002000	0.02628	0.665000	0.25083	0.716000	0.32124	-0.304000	0.09214	CAG	-	superfamily_Pept_Aspartic,HMMPfam_Asp		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	G			41816238	-1	no_errors	NM_002630	genbank	human	provisional	54_36p	missense	SNP	0.581	T
IRAK4	51135	genome.wustl.edu	37	12	44166117	44166117	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:44166117C>G	ENST00000448290.2	+	4	513	c.442C>G	c.(442-444)Cct>Gct	p.P148A	IRAK4_ENST00000431837.1_Missense_Mutation_p.P24A|IRAK4_ENST00000440781.2_Missense_Mutation_p.P24A|IRAK4_ENST00000551736.1_Missense_Mutation_p.P148A	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	148					cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CTATATGCCACCTGACTCCTC	0.378																																																0			12											108.0	100.0	102.0					12																	44166117		2203	4300	6503	42452384	SO:0001583	missense	51135			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.442C>G	12.37:g.44166117C>G	ENSP00000390651:p.Pro148Ala		42452384	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	superfamily_DEATH domain,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220	p.P148A	ENST00000448290.2	37	c.442	CCDS8744.1	12	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808140	0.31961	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T;T	0.77358	-1.0;-1.0;-1.09;-1.09	5.39	4.49	0.54785	.	0.345896	0.33457	N	0.004896	T	0.66858	0.2832	L	0.38838	1.175	0.19775	N	0.99996	B	0.25351	0.124	B	0.21546	0.035	T	0.57814	-0.7746	10	0.39692	T	0.17	-8.3473	10.1273	0.42658	0.0:0.9075:0.0:0.0925	.	148	Q9NWZ3	IRAK4_HUMAN	A	24;24;148;148;148	ENSP00000408734:P24A;ENSP00000390327:P24A;ENSP00000390651:P148A;ENSP00000446490:P148A	ENSP00000349096:P148A	P	+	1	0	IRAK4	42452384	0.075000	0.21258	0.433000	0.26760	0.018000	0.09664	0.706000	0.25690	1.405000	0.46838	0.655000	0.94253	CCT	-	NULL		0.378	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK4	protein_coding	OTTHUMT00000403947.1	C			42452384	+1	no_errors	NM_016123	genbank	human	reviewed	54_36p	missense	SNP	0.085	G
SERINC3	10955	genome.wustl.edu	37	20	43132514	43132514	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr20:43132514G>A	ENST00000342374.4	-	8	1154	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	SERINC3_ENST00000255175.1_Silent_p.L333L|SERINC3_ENST00000541235.1_Silent_p.L278L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	333					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TCTGAATCCAGTAAAGACCCA	0.418																																																0			20											113.0	118.0	116.0					20																	43132514		2203	4300	6503	42565928	SO:0001819	synonymous_variant	10955			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.997C>T	20.37:g.43132514G>A			42565928	B4DUE9|O43717|Q9BR33	Silent	SNP	HMMPfam_Serinc	p.L333	ENST00000342374.4	37	c.997	CCDS13333.1	20																																																																																			-	HMMPfam_Serinc		0.418	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	protein_coding	OTTHUMT00000080544.3	G	NM_006811		42565928	-1	no_errors	NM_006811	genbank	human	validated	54_36p	silent	SNP	0.987	A
HECW1	23072	genome.wustl.edu	37	7	43546773	43546773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:43546773C>A	ENST00000395891.2	+	22	4274	c.3669C>A	c.(3667-3669)taC>taA	p.Y1223*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.Y1189*|AC011738.4_ENST00000436105.1_RNA	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1223					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCCCCCTACCGAAGAGACT	0.473																																																0			7											82.0	87.0	85.0					7																	43546773		1839	4088	5927	43513298	SO:0001587	stop_gained	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3669C>A	7.37:g.43546773C>A	ENSP00000379228:p.Tyr1223*		43513298	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT	p.Y1223*	ENST00000395891.2	37	c.3669	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	45	12.066045	0.99632	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.9	3.12	0.35913	.	0.167173	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1631	0.48526	0.0:0.7964:0.0:0.2036	.	.	.	.	X	1223;1189;1223	.	ENSP00000265522:Y1223X	Y	+	3	2	HECW1	43513298	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	0.476000	0.22180	0.845000	0.35118	0.542000	0.68232	TAC	-	NULL		0.473	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43513298	+1	no_errors	NM_015052	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
HNRNPL	3191	genome.wustl.edu	37	19	39327371	39327371	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr19:39327371G>A	ENST00000221419.5	-	13	2127	c.1761C>T	c.(1759-1761)caC>caT	p.H587H	HNRNPL_ENST00000600873.1_Silent_p.H454H|AC104534.3_ENST00000594769.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	587					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATTAGGAGGCGTGCTGAGCAG	0.448																																																0			19											195.0	179.0	184.0					19																	39327371		2203	4300	6503	44019211	SO:0001819	synonymous_variant	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1761C>T	19.37:g.39327371G>A			44019211	A6ND69|A6NIT8|Q9H3P3	Silent	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.H587	ENST00000221419.5	37	c.1761	CCDS33015.1	19																																																																																			-	NULL		0.448	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	protein_coding	OTTHUMT00000462670.1	G			44019211	-1	no_errors	NM_001533	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CDC5L	988	genome.wustl.edu	37	6	44364163	44364163	+	Silent	SNP	A	A	G	rs370065367		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:44364163A>G	ENST00000371477.3	+	5	824	c.525A>G	c.(523-525)caA>caG	p.Q175Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	175	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGAGAAACAATTGGAAGAAG	0.388																																																0			6											180.0	189.0	186.0					6																	44364163		2203	4300	6503	44472141	SO:0001819	synonymous_variant	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.525A>G	6.37:g.44364163A>G			44472141	Q76N46|Q99974	Silent	SNP	superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.Q175	ENST00000371477.3	37	c.525	CCDS4912.1	6																																																																																			-	NULL		0.388	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	protein_coding	OTTHUMT00000040743.1	A			44472141	+1	no_errors	NM_001253	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
FNDC3A	22862	genome.wustl.edu	37	13	49580384	49580384	+	Missense_Mutation	SNP	C	C	G	rs372893646		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr13:49580384C>G	ENST00000492622.2	+	2	363	c.58C>G	c.(58-60)Ctt>Gtt	p.L20V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.L20V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	20					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGATATTTCTCTTTTGTCTGC	0.328																																																0			13						C	VAL/LEU	0,3712		0,0,1856	156.0	143.0	147.0		58	5.3	1.0	13		147	1,8191		0,1,4095	no	missense	FNDC3A	NM_001079673.1	32	0,1,5951	GG,GC,CC		0.0122,0.0,0.0084	benign	20/1199	49580384	1,11903	1856	4096	5952	48478385	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.58C>G	13.37:g.49580384C>G	ENSP00000417257:p.Leu20Val		48478385	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III	p.L20V	ENST00000492622.2	37	c.58	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733046	0.48939	0.0	1.22E-4	ENSG00000102531	ENST00000492622;ENST00000541916	T;T	0.36699	1.24;1.24	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000042	T	0.29749	0.0743	L	0.39898	1.24	0.37888	D	0.930625	B	0.32829	0.386	B	0.24269	0.052	T	0.15065	-1.0450	10	0.34782	T	0.22	-6.3703	16.9059	0.86127	0.0:1.0:0.0:0.0	.	20	Q9Y2H6	FND3A_HUMAN	V	20	ENSP00000417257:L20V;ENSP00000441831:L20V	ENSP00000420275:L20V	L	+	1	0	FNDC3A	48478385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.867000	0.63013	2.660000	0.90430	0.563000	0.77884	CTT	-	NULL		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	protein_coding	OTTHUMT00000354845.2	C	NM_014923		48478385	+1	no_errors	NM_001079673	genbank	human	validated	54_36p	missense	SNP	1.000	G
DNAH1	25981	genome.wustl.edu	37	3	52378532	52378532	+	Missense_Mutation	SNP	C	C	T	rs377236847		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:52378532C>T	ENST00000420323.2	+	9	1574	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	438	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCAGTCTTGCCAGAGAAGTG	0.582																																																0			3											105.0	110.0	108.0					3																	52378532		2069	4203	6272	52353572	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1313C>T	3.37:g.52378532C>T	ENSP00000401514:p.Ala438Val		52353572	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.A438V	ENST00000420323.2	37	c.1313	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349579	0.24426	.	.	ENSG00000114841	ENST00000420323	T	0.21543	2.0	5.04	3.07	0.35406	.	0.629005	0.14039	N	0.345562	T	0.10680	0.0261	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.32613	-0.9900	10	0.19147	T	0.46	.	8.0336	0.30480	0.2635:0.3727:0.3638:0.0	.	438;438	C9JXH6;Q9P2D7-3	.;.	V	438	ENSP00000401514:A438V	ENSP00000401514:A438V	A	+	2	0	DNAH1	52353572	0.651000	0.27340	0.106000	0.21319	0.996000	0.88848	0.669000	0.25142	1.075000	0.40932	0.655000	0.94253	GCC	-	NULL		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52353572	+1	no_errors	ENST00000273600	ensembl	human	known	54_36p	missense	SNP	0.009	T
OLFM4	10562	genome.wustl.edu	37	13	53624434	53624434	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr13:53624434C>A	ENST00000219022.2	+	5	1139	c.1061C>A	c.(1060-1062)aCc>aAc	p.T354N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	354	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTAACCTGACCACCAACACG	0.438																																																0			13											186.0	170.0	175.0					13																	53624434		2203	4300	6503	52522435	SO:0001583	missense	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1061C>A	13.37:g.53624434C>A	ENSP00000219022:p.Thr354Asn		52522435	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	HMMPfam_OLF,HMMSmart_OLF	p.T354N	ENST00000219022.2	37	c.1061	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977692	0.18812	.	.	ENSG00000102837	ENST00000219022	T	0.10763	2.84	5.92	1.75	0.24633	Olfactomedin-like (3);	0.401329	0.31601	N	0.007375	T	0.06872	0.0175	N	0.16708	0.43	0.24866	N	0.99231	B	0.20459	0.045	B	0.29598	0.104	T	0.41342	-0.9514	10	0.17369	T	0.5	.	10.8873	0.46974	0.5023:0.4072:0.0906:0.0	.	354	Q6UX06	OLFM4_HUMAN	N	354	ENSP00000219022:T354N	ENSP00000219022:T354N	T	+	2	0	OLFM4	52522435	0.013000	0.17824	0.445000	0.26908	0.318000	0.28184	0.375000	0.20518	0.377000	0.24735	0.650000	0.86243	ACC	-	HMMPfam_OLF,HMMSmart_OLF		0.438	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	protein_coding	OTTHUMT00000045112.2	C	NM_006418		52522435	+1	no_errors	NM_006418	genbank	human	reviewed	54_36p	missense	SNP	0.116	A
OR4D1	26689	genome.wustl.edu	37	17	56234395	56234395	+	IGR	SNP	G	G	A	rs372626380	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:56234395G>A	ENST00000268912.5	+	0	1024					NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTCTGTTTTCGTCCAATGAGA	0.682													G|||	44	0.00878594	0.0333	0.0	5008	,	,		13886	0.0		0.0	False		,,,				2504	0.0															0			17																																								53589394	SO:0001628	intergenic_variant	55545			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615			17.37:g.56234395G>A			53589394	B2RN14|Q8NGB1|Q96R76	RNA	SNP	-	NULL	ENST00000268912.5	37	NULL	CCDS42365.1	17																																																																																			-	-		0.682	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX2P1	protein_coding	OTTHUMT00000443364.1	G			53589394	+1	pseudogene	NR_002307	genbank	human	provisional	54_36p	rna	SNP	0.114	A
HUWE1	10075	genome.wustl.edu	37	X	53578127	53578127	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:53578127C>A	ENST00000342160.3	-	64	9577	c.9120G>T	c.(9118-9120)gaG>gaT	p.E3040D	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3040D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3040					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCGCTGCTGCTCAGCTCTCT	0.577																																																0			X											94.0	82.0	86.0					X																	53578127		2203	4300	6503	53594852	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9120G>T	X.37:g.53578127C>A	ENSP00000340648:p.Glu3040Asp		53594852	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.E3040D	ENST00000342160.3	37	c.9120	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.22|14.22	2.470911|2.470911	0.43942|0.43942	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.49720	.|0.77;0.77	5.88|5.88	2.2|2.2	0.27929|0.27929	.|.	.|0.127856	.|0.51477	.|D	.|0.000089	T|T	0.57242|0.57242	0.2040|0.2040	L|L	0.58810|0.58810	1.83|1.83	0.49299|0.49299	D|D	0.99977|0.99977	.|D;D	.|0.57257	.|0.979;0.974	.|D;D	.|0.74023	.|0.982;0.969	T|T	0.50338|0.50338	-0.8840|-0.8840	5|10	.|0.30854	.|T	.|0.27	.|.	7.2918|7.2918	0.26370|0.26370	0.0:0.4754:0.0:0.5246|0.0:0.4754:0.0:0.5246	.|.	.|3040;3024	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	S|D	2074|3040	.|ENSP00000340648:E3040D;ENSP00000262854:E3040D	.|ENSP00000262854:E3040D	A|E	-|-	1|3	0|2	HUWE1|HUWE1	53594852|53594852	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.518000|0.518000	0.22847|0.22847	0.256000|0.256000	0.21614|0.21614	0.600000|0.600000	0.82982|0.82982	GCA|GAG	-	NULL		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53594852	-1	no_errors	NM_031407	genbank	human	validated	54_36p	missense	SNP	0.999	A
HUWE1	10075	genome.wustl.edu	37	X	53672376	53672376	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:53672376C>A	ENST00000342160.3	-	6	848	c.391G>T	c.(391-393)Gtg>Ttg	p.V131L	HUWE1_ENST00000262854.6_Missense_Mutation_p.V131L|HUWE1_ENST00000218328.8_Missense_Mutation_p.V131L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	131					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCCAGCACCACTTGCATA	0.443																																																0			X											85.0	67.0	73.0					X																	53672376		2203	4300	6503	53689101	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.391G>T	X.37:g.53672376C>A	ENSP00000340648:p.Val131Leu		53689101	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	HMMPfam_UBA,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_WWE,superfamily_UBA-like,HMMPfam_DUF908,HMMPfam_DUF913,HMMSmart_SM00165,superfamily_ARM repeat	p.V131L	ENST00000342160.3	37	c.391	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734568	0.69189	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.65916	-0.1;-0.1;-0.18	5.23	5.23	0.72850	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.178859	0.35349	N	0.003271	T	0.54695	0.1874	N	0.26092	0.79	0.54753	D	0.999984	P	0.38729	0.644	B	0.41271	0.352	T	0.57757	-0.7756	10	0.45353	T	0.12	.	16.5667	0.84600	0.0:1.0:0.0:0.0	.	131	Q7Z6Z7	HUWE1_HUMAN	L	131	ENSP00000340648:V131L;ENSP00000262854:V131L;ENSP00000218328:V131L	ENSP00000218328:V131L	V	-	1	0	HUWE1	53689101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.847000	0.75404	2.167000	0.68274	0.600000	0.82982	GTG	-	HMMPfam_DUF908		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53689101	-1	no_errors	NM_031407	genbank	human	validated	54_36p	missense	SNP	1.000	A
CACNA2D3	55799	genome.wustl.edu	37	3	54798363	54798363	+	Silent	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:54798363T>A	ENST00000474759.1	+	13	1413	c.1365T>A	c.(1363-1365)gcT>gcA	p.A455A	CACNA2D3_ENST00000490478.1_Silent_p.A361A|CACNA2D3_ENST00000288197.5_Silent_p.A455A|CACNA2D3_ENST00000415676.2_Silent_p.A455A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	455	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGACCGAAGCTTACATTGACA	0.507																																																0			3											99.0	96.0	97.0					3																	54798363		2045	4194	6239	54773403	SO:0001819	synonymous_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1365T>A	3.37:g.54798363T>A			54773403	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	HMMPfam_VWA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_Cache_1	p.A455	ENST00000474759.1	37	c.1365	CCDS54598.1	3																																																																																			-	HMMPfam_Cache_1		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	T			54773403	+1	no_errors	NM_018398	genbank	human	reviewed	54_36p	silent	SNP	0.779	A
RPS6KB1	6198	genome.wustl.edu	37	17	57970680	57970680	+	Silent	SNP	G	G	A	rs56376112	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:57970680G>A	ENST00000225577.4	+	1	156	c.135G>A	c.(133-135)gaG>gaA	p.E45E	RPS6KB1_ENST00000406116.3_Silent_p.E45E|TUBD1_ENST00000340993.6_5'Flank|TUBD1_ENST00000592426.1_5'Flank|TUBD1_ENST00000539018.1_5'Flank|TUBD1_ENST00000346141.6_5'Flank|TUBD1_ENST00000376094.4_5'Flank|RPS6KB1_ENST00000443572.2_Silent_p.E45E|TUBD1_ENST00000394239.3_5'Flank|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000325752.3_5'Flank|RPS6KB1_ENST00000393021.3_5'UTR	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	45					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ATGAGCTGGAGGAGGGGGTGA	0.697													G|||	30	0.00599042	0.0197	0.0058	5008	,	,		13939	0.0		0.0	False		,,,				2504	0.0															0			17						G		107,4287		3,101,2093	15.0	17.0	16.0		135	4.5	1.0	17	dbSNP_129	16	1,8595		0,1,4297	no	coding-synonymous	RPS6KB1	NM_003161.2		3,102,6390	AA,AG,GG		0.0116,2.4351,0.8314		45/526	57970680	108,12882	2197	4298	6495	55325462	SO:0001819	synonymous_variant	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.135G>A	17.37:g.57970680G>A			55325462	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C	p.E45	ENST00000225577.4	37	c.135	CCDS11621.1	17																																																																																			-	NULL		0.697	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	protein_coding	OTTHUMT00000319324.1	G	NM_003161		55325462	+1	no_errors	NM_003161	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
LOC100130849	100130849	genome.wustl.edu	37	7	56945163	56945163	+	RNA	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:56945163C>A	ENST00000448242.1	-	0	274					NR_038450.1																						GCTGCTTCCACTGGTGACGTC	0.577																																																0			7																																								56912657			0																															7.37:g.56945163C>A			56912657		Missense_Mutation	SNP	NULL	p.S84I	ENST00000448242.1	37	c.251		7																																																																																			-	NULL		0.577	RP13-580B18.1-001	KNOWN	basic	processed_transcript	LOC100130849	pseudogene	OTTHUMT00000343753.1	C			56912657	-1	no_errors	XM_001719090	genbank	human	model	54_36p	missense	SNP	0.955	A
CDH20	28316	genome.wustl.edu	37	18	59158015	59158015	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr18:59158015C>A	ENST00000262717.4	+	2	627	c.229C>A	c.(229-231)Cct>Act	p.P77T	CDH20_ENST00000538374.1_Missense_Mutation_p.P77T|CDH20_ENST00000536675.2_Missense_Mutation_p.P77T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGGGACCGACCCTTTGTATGT	0.453																																																0			18											120.0	121.0	120.0					18																	59158015		2203	4300	6503	57308995	SO:0001583	missense	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.229C>A	18.37:g.59158015C>A	ENSP00000262717:p.Pro77Thr		57308995	Q495S3	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.P77T	ENST00000262717.4	37	c.229	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416893	0.62511	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.00745	5.75;5.75;5.75	5.06	5.06	0.68205	Cadherin (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.04634	0.0126	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.44003	-0.9356	10	0.49607	T	0.09	.	18.7888	0.91965	0.0:1.0:0.0:0.0	.	77	Q9HBT6	CAD20_HUMAN	T	77	ENSP00000444767:P77T;ENSP00000442226:P77T;ENSP00000262717:P77T	ENSP00000262717:P77T	P	+	1	0	CDH20	57308995	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.226000	0.78060	2.505000	0.84491	0.557000	0.71058	CCT	-	superfamily_Cadherin,HMMPfam_Cadherin		0.453	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	protein_coding	OTTHUMT00000256141.2	C	NM_031891		57308995	+1	no_errors	NM_031891	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR5AZ1P	283193	genome.wustl.edu	37	11	57685217	57685217	+	IGR	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:57685217G>T								CTNND1 (98199 upstream) : OR9Q1 (106135 downstream)																							GCAGCTTAAAGATGCACCCAG	0.493																																																0			11																																								57441793	SO:0001628	intergenic_variant	0																															11.37:g.57685217G>T			57441793		Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.I162		37	c.486		11																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1	0	0.493					OR5AZ1P			G			57441793	-1	no_errors	ENST00000319748	ensembl	human	known	54_36p	silent	SNP	0.002	T
SIX1	6495	genome.wustl.edu	37	14	61113247	61113247	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:61113247G>A	ENST00000247182.6	-	2	881	c.609C>T	c.(607-609)ctC>ctT	p.L203L	SIX1_ENST00000554986.1_Silent_p.L30L	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	203					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCAGAGGAGAGAGTTGGTTCT	0.458																																																0			14											84.0	73.0	77.0					14																	61113247		2203	4300	6503	60183000	SO:0001819	synonymous_variant	6495			X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.609C>T	14.37:g.61113247G>A			60183000	Q53Y16|Q96H64	Silent	SNP	superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.L203	ENST00000247182.6	37	c.609	CCDS9748.1	14																																																																																			-	NULL		0.458	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX1	protein_coding	OTTHUMT00000276951.3	G			60183000	-1	no_errors	NM_005982	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
MON2	23041	genome.wustl.edu	37	12	62926226	62926226	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:62926226T>A	ENST00000393632.2	+	12	1800	c.1409T>A	c.(1408-1410)aTg>aAg	p.M470K	MON2_ENST00000552115.1_Missense_Mutation_p.M470K|MON2_ENST00000393630.3_Missense_Mutation_p.M470K|MON2_ENST00000546600.1_Missense_Mutation_p.M470K|MON2_ENST00000393629.2_Missense_Mutation_p.M470K|MON2_ENST00000280379.6_Missense_Mutation_p.M470K|MON2_ENST00000552738.1_Missense_Mutation_p.M470K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	470					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGCTTAGAAATGTTGGACAAA	0.328																																																0			12											108.0	92.0	98.0					12																	62926226		2203	4300	6503	61212493	SO:0001583	missense	23041				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1409T>A	12.37:g.62926226T>A	ENSP00000377252:p.Met470Lys		61212493	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_DUF1981	p.M470K	ENST00000393632.2	37	c.1409	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354907	0.82243	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.55413	0.53;0.52;0.52;0.53;0.53;0.53;0.54	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.69823	2.125	0.80722	D	1	P;P;P;D	0.54601	0.944;0.876;0.93;0.967	B;P;P;P	0.54664	0.391;0.66;0.66;0.758	T	0.67245	-0.5719	9	.	.	.	-15.8386	15.4237	0.75035	0.0:0.0:0.0:1.0	.	470;470;470;470	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	K	470;470;470;470;398;470;470;470	ENSP00000377252:M470K;ENSP00000377250:M470K;ENSP00000280379:M470K;ENSP00000447407:M470K;ENSP00000449215:M470K;ENSP00000377249:M470K;ENSP00000446635:M470K	.	M	+	2	0	MON2	61212493	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.040000	0.89188	2.030000	0.59900	0.460000	0.39030	ATG	-	NULL		0.328	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	protein_coding	OTTHUMT00000406767.3	T	NM_015026		61212493	+1	no_errors	NM_015026	genbank	human	validated	54_36p	missense	SNP	1.000	A
USP29	57663	genome.wustl.edu	37	19	57641099	57641099	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr19:57641099G>A	ENST00000254181.4	+	4	1510	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	USP29_ENST00000598197.1_Silent_p.G352G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	352	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATTACTTGGGAATGTTAAAA	0.378																																																0			19											61.0	64.0	63.0					19																	57641099		2203	4300	6503	62332911	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1056G>A	19.37:g.57641099G>A			62332911		Silent	SNP	superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.G352	ENST00000254181.4	37	c.1056	CCDS33124.1	19																																																																																			-	superfamily_SSF54001,HMMPfam_UCH		0.378	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	protein_coding	OTTHUMT00000465075.1	G			62332911	+1	no_errors	NM_020903	genbank	human	validated	54_36p	silent	SNP	0.000	A
SLC22A6	9356	genome.wustl.edu	37	11	62751890	62751890	+	Silent	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:62751890G>A	ENST00000377871.3	-	1	539	c.273C>T	c.(271-273)ctC>ctT	p.L91L	SLC22A6_ENST00000421062.2_Silent_p.L91L|SLC22A6_ENST00000458333.2_Silent_p.L91L|SLC22A6_ENST00000360421.4_Silent_p.L91L|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	91					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTGTGCCATTGAGAAAGGGCA	0.632																																																0			11											83.0	82.0	82.0					11																	62751890		2201	4298	6499	62508466	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.273C>T	11.37:g.62751890G>A			62508466	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	HMMPfam_MFS_1,superfamily_MFS general substrate transporter	p.L91	ENST00000377871.3	37	c.273	CCDS31591.1	11																																																																																			-	NULL		0.632	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	protein_coding	OTTHUMT00000396186.1	G	NM_004790		62508466	-1	no_errors	NM_004790	genbank	human	reviewed	54_36p	silent	SNP	0.858	A
KCNH5	27133	genome.wustl.edu	37	14	63483597	63483597	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:63483597A>G	ENST00000322893.7	-	2	417	c.149T>C	c.(148-150)cTc>cCc	p.L50P	KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000420622.2_Missense_Mutation_p.L50P|KCNH5_ENST00000394968.1_5'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	50	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATATCCAGAGAGTTTACAAAA	0.373																																																0			14											102.0	93.0	96.0					14																	63483597		2203	4299	6502	62553350	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.149T>C	14.37:g.63483597A>G	ENSP00000321427:p.Leu50Pro		62553350	C9JP98	Missense_Mutation	SNP	superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS,HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding	p.L50P	ENST00000322893.7	37	c.149	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503104	0.85176	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.99760	-6.66;-6.66	5.43	5.43	0.79202	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	D	0.96823	0.9605	10	0.87932	D	0	.	15.4803	0.75521	1.0:0.0:0.0:0.0	.	50;50	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	P	50	ENSP00000321427:L50P;ENSP00000395439:L50P	ENSP00000321427:L50P	L	-	2	0	KCNH5	62553350	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.077000	0.62373	0.482000	0.46254	CTC	-	superfamily_PYP-like sensor domain (PAS domain)		0.373	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	A	NM_139318		62553350	-1	no_errors	NM_139318	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
LAS1L	81887	genome.wustl.edu	37	X	64749716	64749716	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:64749716C>G	ENST00000374811.3	-	5	597	c.557G>C	c.(556-558)tGc>tCc	p.C186S	LAS1L_ENST00000374804.5_Missense_Mutation_p.C144S|LAS1L_ENST00000374807.5_Missense_Mutation_p.C186S|LAS1L_ENST00000312391.8_Missense_Mutation_p.C186S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	186					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGGCGGCACCAATAGGT	0.547																																																0			X											94.0	83.0	87.0					X																	64749716		2203	4300	6503	64666441	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.557G>C	X.37:g.64749716C>G	ENSP00000363944:p.Cys186Ser		64666441	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	HMMPfam_Las1	p.C186S	ENST00000374811.3	37	c.557	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968177	0.34754	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.92	5.06	0.68205	.	0.155345	0.64402	N	0.000012	T	0.14960	0.0361	N	0.02275	-0.615	0.26788	N	0.969467	B;B;B	0.28713	0.141;0.22;0.013	B;B;B	0.30495	0.041;0.116;0.009	T	0.23476	-1.0187	9	0.08179	T	0.78	.	11.957	0.52986	0.0:0.8303:0.1697:0.0	.	144;186;186	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	S	186;186;144;186	.	ENSP00000308649:C186S	C	-	2	0	LAS1L	64666441	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.148000	0.42235	1.235000	0.43724	0.600000	0.82982	TGC	-	HMMPfam_Las1		0.547	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64666441	-1	no_errors	NM_031206	genbank	human	provisional	54_36p	missense	SNP	1.000	G
ACTN3	89	genome.wustl.edu	37	11	66325386	66325386	+	lincRNA	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:66325386G>T	ENST00000504911.1	-	0	1160				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							GCCCTCCGAGGGCAAGCTGGT	0.592																																																0			11											54.0	51.0	52.0					11																	66325386		2200	4295	6495	66081962			89																															11.37:g.66325386G>T			66081962		Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand_Ca_insen,PatternScan_DEHYDRATASE_SER_THR	p.G372C	ENST00000504911.1	37	c.1114		11																																																																																			-	superfamily_Spectrin repeat,HMMPfam_Spectrin		0.592	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	ACTN3	lincRNA	OTTHUMT00000362463.1	G			66081962	+1	pseudogene	NM_001104	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LRIG1	26018	genome.wustl.edu	37	3	66434545	66434545	+	Silent	SNP	G	G	T	rs550022347		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:66434545G>T	ENST00000273261.3	-	14	2465	c.1941C>A	c.(1939-1941)cgC>cgA	p.R647R	LRIG1_ENST00000383703.3_Intron|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	647	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGACATGCATGCGTCGCTCAC	0.557																																																0			3											124.0	111.0	115.0					3																	66434545		2203	4300	6503	66517235	SO:0001819	synonymous_variant	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1941C>A	3.37:g.66434545G>T			66517235	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408	p.R647	ENST00000273261.3	37	c.1941	CCDS33783.1	3																																																																																			-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.557	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	protein_coding	OTTHUMT00000351930.1	G	NM_015541		66517235	-1	no_errors	NM_015541	genbank	human	validated	54_36p	silent	SNP	1.000	T
FRMD4B	23150	genome.wustl.edu	37	3	69242966	69242966	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:69242966G>C	ENST00000398540.3	-	17	1630	c.1547C>G	c.(1546-1548)gCt>gGt	p.A516G	FRMD4B_ENST00000542259.1_Missense_Mutation_p.A462G|FRMD4B_ENST00000478263.1_Missense_Mutation_p.A168G	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	516					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTCTTTGCAGCTTCCACCAG	0.368																																																0			3											121.0	112.0	114.0					3																	69242966		1836	4094	5930	69325656	SO:0001583	missense	23150			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.1547C>G	3.37:g.69242966G>C	ENSP00000381549:p.Ala516Gly		69325656	Q8TAI3	Missense_Mutation	SNP	superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C	p.A516G	ENST00000398540.3	37	c.1547	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941631	0.92526	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.92752	-3.1;-3.02	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.96189	0.9136	10	0.72032	D	0.01	-15.0061	19.8045	0.96525	0.0:0.0:1.0:0.0	.	360;516	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	G	516;462;168	ENSP00000381549:A516G;ENSP00000437658:A462G	ENSP00000381549:A516G	A	-	2	0	FRMD4B	69325656	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.694000	0.91930	0.585000	0.79938	GCT	-	NULL		0.368	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	protein_coding	OTTHUMT00000352111.1	G			69325656	-1	no_errors	NM_015123	genbank	human	validated	54_36p	missense	SNP	1.000	C
TTYH2	94015	genome.wustl.edu	37	17	72239609	72239609	+	Splice_Site	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:72239609G>C	ENST00000269346.4	+	5	805		c.e5+1		TTYH2_ENST00000534346.1_Splice_Site|TTYH2_ENST00000529107.1_Splice_Site	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2							chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCTGGCCTCGTGAGTATCCC	0.597																																																0			17											135.0	113.0	120.0					17																	72239609		2203	4300	6503	69751204	SO:0001630	splice_region_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.731+1G>C	17.37:g.72239609G>C			69751204	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Splice_Site	SNP	-	e5+1	ENST00000269346.4	37	c.731+1	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205490	0.79127	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7025	0.91626	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTYH2	69751204	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.155000	0.94700	2.518000	0.84900	0.563000	0.77884	.	-	-		0.597	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	protein_coding	OTTHUMT00000387459.1	G		Intron	69751204	+1	no_errors	NM_032646	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C
NONO	4841	genome.wustl.edu	37	X	70519852	70519852	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:70519852G>T	ENST00000276079.8	+	12	1547	c.1342G>T	c.(1342-1344)Ggt>Tgt	p.G448C	NONO_ENST00000535149.1_Missense_Mutation_p.G359C|NONO_ENST00000373841.1_Missense_Mutation_p.G448C|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.G448C|ITGB1BP2_ENST00000373829.3_5'Flank	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	448					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGGGGCAATTGGTGGAACTCC	0.468			T	TFE3	papillary renal cancer																																		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0			X											119.0	100.0	106.0					X																	70519852		2203	4300	6503	70436577	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1342G>T	X.37:g.70519852G>T	ENSP00000276079:p.Gly448Cys		70436577	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_NOPS	p.G448C	ENST00000276079.8	37	c.1342	CCDS14410.1	X	.	.	.	.	.	.	.	.	.	.	N	18.06	3.540356	0.65085	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.25749	1.86;1.78;1.78;1.78	5.06	4.18	0.49190	.	0.159230	0.56097	D	0.000031	T	0.46502	0.1396	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	P	0.61800	0.894	T	0.50541	-0.8816	10	0.72032	D	0.01	-7.0099	14.0254	0.64582	0.0:0.0:0.8481:0.1519	.	448	Q15233	NONO_HUMAN	C	359;448;448;448	ENSP00000441364:G359C;ENSP00000276079:G448C;ENSP00000362963:G448C;ENSP00000362947:G448C	ENSP00000276079:G448C	G	+	1	0	NONO	70436577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.472000	0.73567	1.092000	0.41356	0.529000	0.55759	GGT	-	NULL		0.468	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	protein_coding	OTTHUMT00000057138.1	G	NM_007363		70436577	+1	no_errors	NM_007363	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DYSF	8291	genome.wustl.edu	37	2	71908228	71908228	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:71908228T>G	ENST00000258104.3	+	53	6321	c.6044T>G	c.(6043-6045)cTt>cGt	p.L2015R	DYSF_ENST00000410020.3_Missense_Mutation_p.L2054R|DYSF_ENST00000409762.1_Missense_Mutation_p.L2032R|DYSF_ENST00000409582.3_Missense_Mutation_p.L2053R|DYSF_ENST00000429174.2_Missense_Mutation_p.L2036R|DYSF_ENST00000409366.1_Missense_Mutation_p.L2037R|DYSF_ENST00000394120.2_Missense_Mutation_p.L2016R|DYSF_ENST00000410041.1_Missense_Mutation_p.L2033R|DYSF_ENST00000413539.2_Missense_Mutation_p.L2046R|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.L2023R|DYSF_ENST00000409651.1_Missense_Mutation_p.L2047R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2015					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AACCCTAAGCTTGAGGACCCA	0.602																																																0			2											57.0	52.0	54.0					2																	71908228		2203	4300	6503	71761736	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6044T>G	2.37:g.71908228T>G	ENSP00000258104:p.Leu2015Arg		71761736	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694	p.L2015R	ENST00000258104.3	37	c.6044	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769822	0.69992	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.38;-3.36;-3.34;-3.37;-3.38;-3.37;-3.33;-3.34;-3.35;-3.38	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.92026	3.265	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;0.999	D	0.98048	1.0386	10	0.87932	D	0	-24.2565	14.3007	0.66346	0.0:0.0:0.0:1.0	.	779;2047;2054;2037;2002;2033;2023;2032;2022;2046;2053;2036;2001;2016;2015	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	2046;2032;2053;2036;2015;2047;2016;2023;2037;2054;2033	ENSP00000407046:L2046R;ENSP00000387137:L2032R;ENSP00000386547:L2053R;ENSP00000398305:L2036R;ENSP00000258104:L2015R;ENSP00000386683:L2047R;ENSP00000377678:L2016R;ENSP00000386285:L2023R;ENSP00000386512:L2037R;ENSP00000386881:L2054R;ENSP00000386617:L2033R	ENSP00000258104:L2015R	L	+	2	0	DYSF	71761736	1.000000	0.71417	0.688000	0.30117	0.424000	0.31475	7.967000	0.87967	2.259000	0.74868	0.528000	0.53228	CTT	-	NULL		0.602	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	T	NM_003494		71761736	+1	no_errors	NM_003494	genbank	human	reviewed	54_36p	missense	SNP	0.994	G
PSMD7	5713	genome.wustl.edu	37	16	74336158	74336158	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr16:74336158G>A	ENST00000219313.4	+	5	546	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000540379.1_Missense_Mutation_p.E59K|AC009120.6_ENST00000565313.1_RNA|PSMD7_ENST00000567958.1_Missense_Mutation_p.E136K|PSMD7_ENST00000568615.2_Missense_Mutation_p.E136K	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	136					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						GCTGCCTACAGAAGCGTACAT	0.453																																																0			16											168.0	149.0	155.0					16																	74336158		2198	4300	6498	72893659	SO:0001583	missense	5713			D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.406G>A	16.37:g.74336158G>A	ENSP00000219313:p.Glu136Lys		72893659	D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	HMMPfam_Mov34,HMMSmart_JAB_MPN	p.E136K	ENST00000219313.4	37	c.406	CCDS10910.1	16	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413558	0.62511	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.39592	1.07;1.09	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	L	0.43152	1.355	0.80722	D	1	B	0.18461	0.028	B	0.18871	0.023	T	0.11372	-1.0590	10	0.23891	T	0.37	-0.1991	20.8598	0.99761	0.0:0.0:1.0:0.0	.	136	P51665	PSD7_HUMAN	K	136;59	ENSP00000219313:E136K;ENSP00000443925:E59K	ENSP00000219313:E136K	E	+	1	0	PSMD7	72893659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GAA	-	HMMSmart_JAB_MPN		0.453	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD7	protein_coding	OTTHUMT00000269010.2	G	NM_002811		72893659	+1	no_errors	NM_002811	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TSIX	9383	genome.wustl.edu	37	X	73047108	73047108	+	lincRNA	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:73047108C>A	ENST00000604411.1	+	0	35069				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GTTAGGAAGCCCCTCTGCCAC	0.478																																																0			X											179.0	159.0	165.0					X																	73047108		876	1991	2867	72963833			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047108C>A			72963833		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			-	-		0.478	TSIX-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000469120.1	C	NR_003255		72963833	-1	no_errors	NR_001564	genbank	human	reviewed	54_36p	rna	SNP	0.001	A
GDA	9615	genome.wustl.edu	37	9	74840676	74840676	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr9:74840676T>G	ENST00000358399.3	+	8	891	c.798T>G	c.(796-798)gaT>gaG	p.D266E	GDA_ENST00000238018.4_Missense_Mutation_p.D266E|GDA_ENST00000376989.3_Missense_Mutation_p.D205E|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.D188E|GDA_ENST00000545168.1_Missense_Mutation_p.D192E	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	266					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTGTGTATGATAAAAACAATC	0.274																																																0			9											66.0	75.0	72.0					9																	74840676		2202	4283	6485	74030496	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.798T>G	9.37:g.74840676T>G	ENSP00000351170:p.Asp266Glu		74030496	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases	p.D266E	ENST00000358399.3	37	c.798	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422206	0.43020	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.82	2.23	0.28157	Amidohydrolase 1 (1);	0.319696	0.36932	N	0.002333	D	0.84705	0.5531	L	0.37750	1.13	0.38555	D	0.949555	B;B;B	0.29766	0.256;0.106;0.129	B;B;B	0.35607	0.206;0.092;0.191	T	0.78206	-0.2294	10	0.37606	T	0.19	-16.7935	7.2005	0.25879	0.0:0.3491:0.0:0.6509	.	188;266;266	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	E	192;266;205;188;266;132	ENSP00000437972:D192E;ENSP00000238018:D266E;ENSP00000366188:D205E;ENSP00000366185:D188E;ENSP00000351170:D266E;ENSP00000403897:D132E	ENSP00000238018:D266E	D	+	3	2	GDA	74030496	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	0.276000	0.18716	0.475000	0.27415	0.533000	0.62120	GAT	-	HMMPfam_Amidohydro_1,superfamily_Metallo-dependent hydrolases		0.274	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	protein_coding	OTTHUMT00000052633.1	T			74030496	+1	no_errors	NM_004293	genbank	human	validated	54_36p	missense	SNP	1.000	G
MAGI2	9863	genome.wustl.edu	37	7	77756640	77756640	+	Silent	SNP	C	C	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:77756640C>T	ENST00000354212.4	-	19	3550	c.3297G>A	c.(3295-3297)agG>agA	p.R1099R	MAGI2_ENST00000419488.1_Silent_p.R1085R|MAGI2_ENST00000522391.1_Silent_p.R1099R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1099	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGGGTTGCCTGTAATCCA	0.587																																																0			7											103.0	99.0	100.0					7																	77756640		2203	4300	6503	77594576	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3297G>A	7.37:g.77756640C>T			77594576	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1	p.R1099	ENST00000354212.4	37	c.3297	CCDS5594.1	7																																																																																			-	NULL		0.587	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	protein_coding	OTTHUMT00000253197.3	C	NM_012301		77594576	-1	no_errors	NM_012301	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80041397	80041397	+	Silent	SNP	C	C	T	rs115708196	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:80041397C>T	ENST00000306749.2	-	31	5555	c.5337G>A	c.(5335-5337)ccG>ccA	p.P1779P	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1779	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTCACCGAGCGGGTGGTTCT	0.657													.|||	27	0.00539137	0.0182	0.0043	5008	,	,		15980	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)											0			17						T		69,4325	805.3+/-415.8	1,67,2129	46.0	48.0	48.0		5337	-9.5	0.0	17	dbSNP_132	48	2,8588	813.1+/-407.0	0,2,4293	no	coding-synonymous	FASN	NM_004104.4		1,69,6422	TT,TC,CC		0.0233,1.5703,0.5468		1779/2512	80041397	71,12913	2197	4295	6492	77634686	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5337G>A	17.37:g.80041397C>T			77634686	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	superfamily_Thiolase-like,HMMPfam_ketoacyl-synt,PatternScan_B_KETOACYL_SYNTHASE,HMMPfam_Ketoacyl-synt_C,superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_12,superfamily_GroES-like,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N,HMMPfam_adh_short,superfamily_ACP-like,HMMPfam_PP-binding,PatternScan_PHOSPHOPANTETHEINE,superfamily_alpha/beta-Hydrolases,HMMPfam_Thioesterase	p.P1779	ENST00000306749.2	37	c.5337	CCDS11801.1	17																																																																																			-	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_ADH_zinc_N		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	protein_coding	OTTHUMT00000442369.1	C	NM_004104		77634686	-1	no_errors	NM_004104	genbank	human	reviewed	54_36p	silent	SNP	0.051	T
NRXN3	9369	genome.wustl.edu	37	14	79746731	79746731	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:79746731G>C	ENST00000557594.1	+	1	1050	c.97G>C	c.(97-99)Gta>Cta	p.V33L	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.V33L|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.V33L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	33					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTCAGCTCTGTATGGAGTTC	0.587																																																0			14											211.0	191.0	198.0					14																	79746731		2203	4300	6503	78816484	SO:0001583	missense	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.97G>C	14.37:g.79746731G>C	ENSP00000451672:p.Val33Leu		78816484	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_4.1m	p.V33L	ENST00000557594.1	37	c.97		14	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385827	0.82792	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35789	1.42;1.49;1.29	5.86	5.86	0.93980	.	.	.	.	.	T	0.28300	0.0699	L	0.27053	0.805	0.80722	D	1	B;B;B	0.29301	0.241;0.241;0.067	B;B;B	0.26517	0.07;0.07;0.032	T	0.04090	-1.0978	8	.	.	.	.	18.3577	0.90364	0.0:0.0:1.0:0.0	.	33;33;33	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	33	ENSP00000451672:V33L;ENSP00000281127:V33L;ENSP00000394426:V33L	.	V	+	1	0	NRXN3	78816484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.573000	0.67417	2.778000	0.95560	0.655000	0.94253	GTA	-	NULL		0.587	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	protein_coding	OTTHUMT00000413790.1	G	NM_001105250		78816484	+1	no_errors	NM_001105250	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LIN7A	8825	genome.wustl.edu	37	12	81205336	81205336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:81205336G>A	ENST00000552864.1	-	5	812	c.610C>T	c.(610-612)Cga>Tga	p.R204*		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	204					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CTGGCTGTTCGTAGCTTTTCA	0.502																																																0			12											98.0	86.0	90.0					12																	81205336		2203	4300	6503	79729467	SO:0001587	stop_gained	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.610C>T	12.37:g.81205336G>A	ENSP00000447488:p.Arg204*		79729467	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Nonsense_Mutation	SNP	HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.R204*	ENST00000552864.1	37	c.610	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.427195	0.97559	.	.	ENSG00000111052	ENST00000552864	.	.	.	5.28	4.38	0.52667	.	0.111853	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9628	12.5577	0.56263	0.0:0.0:0.5444:0.4556	.	.	.	.	X	204	.	ENSP00000447488:R204X	R	-	1	2	LIN7A	79729467	0.990000	0.36364	0.967000	0.41034	0.988000	0.76386	1.772000	0.38552	1.199000	0.43173	0.591000	0.81541	CGA	-	superfamily_PDZ domain-like		0.502	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	protein_coding	OTTHUMT00000407760.1	G			79729467	-1	no_errors	NM_004664	genbank	human	validated	54_36p	nonsense	SNP	0.954	A
PTEN	5728	genome.wustl.edu	37	10	89711873	89711873	+	Splice_Site	SNP	A	A	C	rs587781784		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr10:89711873A>C	ENST00000371953.3	+	6	1849		c.e6-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTGTCCACCAGGGAGTAACT	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	49	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(4)|Complex - compound substitution(1)	prostate(16)|central_nervous_system(11)|skin(5)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	10	GRCh37	CS075218	PTEN	S							103.0	106.0	105.0					10																	89711873		2203	4300	6503	89701853	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.493-1A>C	10.37:g.89711873A>C			89701853	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	-	e6-2	ENST00000371953.3	37	c.493-2	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875406	0.72180	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0449	0.80714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89701853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.862000	0.92283	2.198000	0.70561	0.482000	0.46254	.	-	-		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	protein_coding	OTTHUMT00000049241.1	A	NM_000314	Intron	89701853	+1	no_errors	NM_000314	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C
KIAA1731	85459	genome.wustl.edu	37	11	93454923	93454923	+	Intron	SNP	G	G	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:93454923G>A	ENST00000325212.6	+	20	6012				Y_RNA_ENST00000363005.1_RNA|SCARNA9_ENST00000530422.1_RNA|SCARNA9_ENST00000364329.1_RNA|KIAA1731_ENST00000344196.4_Intron|KIAA1731_ENST00000411936.1_Intron|KIAA1731_ENST00000531700.1_Intron|SCARNA9_ENST00000362805.1_RNA			Q9C0D2	K1731_HUMAN	KIAA1731							centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGAGGGTGGGGGGGTGCGTA	0.408																																																0			11											44.0	40.0	41.0					11																	93454923		874	1989	2863	93094571	SO:0001627	intron_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5851-197G>A	11.37:g.93454923G>A			93094571	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	RNA	SNP	-	NULL	ENST00000325212.6	37	NULL	CCDS44708.1	11																																																																																			-	-		0.408	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCARNA9	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93094571	+1	no_errors	NR_002569	genbank	human	provisional	54_36p	rna	SNP	0.271	A
DNM1P46	196968	genome.wustl.edu	37	15	100330587	100330587	+	RNA	SNP	C	C	G	rs138586565	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr15:100330587C>G	ENST00000341853.1	-	0	3604				AC090825.1_ENST00000408584.1_RNA|RN7SL484P_ENST00000462651.2_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										aggtgatccacccgcctcggg	0.498													.|||	60	0.0119808	0.0008	0.0202	5008	,	,		14621	0.0		0.0268	False		,,,				2504	0.0184															0			15											1.0	1.0	1.0					15																	100330587		268	495	763	98148110			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100330587C>G			98148110	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			-	-		0.498	DNM1P46-002	KNOWN	basic	processed_transcript	C15orf51	pseudogene	OTTHUMT00000313543.1	C	NR_003260		98148110	-1	pseudogene	NR_003260	genbank	human	provisional	54_36p	rna	SNP	0.000	G
CHI3L2	1117	genome.wustl.edu	37	1	111781385	111781385	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:111781385G>T	ENST00000445067.2	+	10	1520	c.749G>T	c.(748-750)gGg>gTg	p.G250V	CHI3L2_ENST00000369748.4_Missense_Mutation_p.G250V|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G171V|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G171V|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G240V			Q15782	CH3L2_HUMAN	chitinase 3-like 2	250					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TATGCTGTGGGGTACTGGATA	0.512																																																0			1											113.0	106.0	108.0					1																	111781385		2203	4300	6503	111582908	SO:0001583	missense	1117			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.749G>T	1.37:g.111781385G>T	ENSP00000437082:p.Gly250Val		111582908	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	PatternScan_CHITINASE_18,HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat,superfamily_SSF54556	p.G250V	ENST00000445067.2	37	c.749	CCDS30802.1	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108540	0.37242	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	3.35	1.21	0.21127	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.603732	0.13786	N	0.362871	T	0.06325	0.0163	L	0.39692	1.235	0.36680	D	0.878981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.985;0.985	T	0.39623	-0.9605	10	0.62326	D	0.03	-3.1958	4.3836	0.11305	0.4553:0.0:0.5447:0.0	.	171;240;250	B4DPR7;A6NNY3;Q15782	.;.;CH3L2_HUMAN	V	250;240;250;171;171	ENSP00000437082:G250V;ENSP00000358759:G240V;ENSP00000358763:G250V;ENSP00000437086:G171V;ENSP00000432049:G171V	ENSP00000358759:G240V	G	+	2	0	CHI3L2	111582908	0.002000	0.14202	0.937000	0.37676	0.608000	0.37181	0.076000	0.14712	0.577000	0.29470	-0.253000	0.11424	GGG	-	HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat		0.512	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L2	protein_coding	OTTHUMT00000033669.4	G	NM_004000		111582908	+1	no_errors	NM_004000	genbank	human	validated	54_36p	missense	SNP	0.551	T
DPP10	57628	genome.wustl.edu	37	2	116497350	116497350	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:116497350T>C	ENST00000410059.1	+	9	1213	c.733T>C	c.(733-735)Tca>Cca	p.S245P	DPP10_ENST00000310323.8_Missense_Mutation_p.S238P|DPP10_ENST00000409163.1_Missense_Mutation_p.S195P|DPP10_ENST00000393147.2_Missense_Mutation_p.S249P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	245						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCACTGGTGGTCACCAGATGG	0.463																																																0			2											174.0	153.0	160.0					2																	116497350		2203	4299	6502	116213820	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.733T>C	2.37:g.116497350T>C	ENSP00000386565:p.Ser245Pro		116213820	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9	p.S245P	ENST00000410059.1	37	c.733	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918855	0.92249	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	4.95	4.95	0.65309	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.85229	0.1031	10	0.87932	D	0	-24.8419	14.2337	0.65911	0.0:0.0:0.0:1.0	.	238;249;241;245	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	245;195;241;249;238;195	ENSP00000386565:S245P;ENSP00000387038:S195P;ENSP00000376854:S241P;ENSP00000376855:S249P;ENSP00000309066:S238P	ENSP00000309066:S238P	S	+	1	0	DPP10	116213820	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.825000	0.86693	2.210000	0.71456	0.460000	0.39030	TCA	-	superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N		0.463	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	T	NM_020868		116213820	+1	no_errors	NM_020868	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SIK3	23387	genome.wustl.edu	37	11	116730204	116730204	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:116730204G>C	ENST00000292055.4	-	19	2259	c.2224C>G	c.(2224-2226)Cag>Gag	p.Q742E	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.Q137E|SIK3_ENST00000375300.1_Missense_Mutation_p.Q800E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q742E|SIK3_ENST00000446921.2_Missense_Mutation_p.Q800E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q641E	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	742	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAGCAGGCTGCTGCATACCC	0.567											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0			11											104.0	97.0	99.0					11																	116730204		2201	4296	6497	116235414	SO:0001583	missense	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2224C>G	11.37:g.116730204G>C	ENSP00000292055:p.Gln742Glu	1475	116235414	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.Q742E	ENST00000292055.4	37	c.2224	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.430588|4.430588	0.83776|0.83776	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.76578	.|-1.01;-1.03;0.9;-0.89;-0.55	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.39341	.|U	.|0.001389	T|T	0.77267|0.77267	0.4105|0.4105	L|L	0.29908|0.29908	0.895|0.895	0.49213|0.49213	D|D	0.999765|0.999765	.|P;D;P;D;P	.|0.54047	.|0.955;0.964;0.924;0.964;0.852	.|P;P;P;P;B	.|0.51777	.|0.679;0.561;0.475;0.561;0.359	T|T	0.79636|0.79636	-0.1721|-0.1721	5|10	.|0.54805	.|T	.|0.06	.|.	18.2702|18.2702	0.90065|0.90065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|742;742;641;742;137	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	G|E	841;764|800;742;137;742;641	.|ENSP00000364449:Q800E;ENSP00000292055:Q742E;ENSP00000364437:Q137E;ENSP00000438108:Q742E;ENSP00000415873:Q641E	.|ENSP00000292055:Q742E	A|Q	-|-	2|1	0|0	SIK3|SIK3	116235414|116235414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.583000|4.583000	0.60964|0.60964	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCA|CAG	-	NULL		0.567	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0999	protein_coding		G	NM_025164		116235414	-1	no_errors	NM_025164	genbank	human	validated	54_36p	missense	SNP	1.000	C
TFCP2L1	29842	genome.wustl.edu	37	2	121992811	121992811	+	Silent	SNP	G	G	A	rs372397557		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:121992811G>A	ENST00000263707.5	-	11	1177	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	360					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTTTGATGGCGTTGAAGAGCC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18218	0.0		0.0	False		,,,				2504	0.001															0			2						G		0,4406		0,0,2203	92.0	85.0	87.0		1080	-1.4	1.0	2		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFCP2L1	NM_014553.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		360/480	121992811	1,13005	2203	4300	6503	121709281	SO:0001819	synonymous_variant	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1080C>T	2.37:g.121992811G>A			121709281	Q4ZG43	Silent	SNP	HMMPfam_CP2,superfamily_SAM_homology	p.N360	ENST00000263707.5	37	c.1080	CCDS2134.1	2																																																																																			-	superfamily_SAM_homology		0.552	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	protein_coding	OTTHUMT00000338539.1	G	NM_014553		121709281	-1	no_errors	NM_014553	genbank	human	validated	54_36p	silent	SNP	0.999	A
CTBP2	1488	genome.wustl.edu	37	10	126716039	126716039	+	Intron	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr10:126716039G>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.A97G|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGACATCACTGCCTGTCTGCT	0.597																																																0			10											102.0	88.0	93.0					10																	126716039		2203	4300	6503	126706029	SO:0001627	intron_variant	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11526C>G	10.37:g.126716039G>C			126706029	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	superfamily_SSF52283,HMMPfam_2-Hacid_dh,superfamily_NAD(P)-bd,HMMPfam_2-Hacid_dh_C,PatternScan_D_2_HYDROXYACID_DH_3	p.A97G	ENST00000337195.5	37	c.290	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950606	0.53186	.	.	ENSG00000175029	ENST00000309035	D	0.95377	-3.69	4.7	3.8	0.43715	.	0.171410	0.38436	N	0.001695	D	0.91637	0.7357	.	.	.	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	D	0.88346	0.2978	9	0.52906	T	0.07	.	9.5193	0.39124	0.0797:0.1461:0.7742:0.0	.	97	P56545-2	.	G	97	ENSP00000311825:A97G	ENSP00000311825:A97G	A	-	2	0	CTBP2	126706029	0.982000	0.34865	0.964000	0.40570	0.992000	0.81027	2.969000	0.49232	2.608000	0.88229	0.655000	0.94253	GCA	-	NULL		0.597	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	protein_coding	OTTHUMT00000050900.3	G	NM_001083914		126706029	-1	no_errors	NM_022802	genbank	human	reviewed	54_36p	missense	SNP	0.899	C
WDR33	55339	genome.wustl.edu	37	2	128525786	128525786	+	Nonsense_Mutation	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:128525786T>A	ENST00000322313.4	-	4	513	c.355A>T	c.(355-357)Aag>Tag	p.K119*	WDR33_ENST00000409658.3_Nonsense_Mutation_p.K119*|WDR33_ENST00000393006.1_Nonsense_Mutation_p.K119*	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	119					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACAGGACACTTTACTTTATTT	0.338																																																0			2											68.0	64.0	65.0					2																	128525786		2190	4292	6482	128242256	SO:0001587	stop_gained	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.355A>T	2.37:g.128525786T>A	ENSP00000325377:p.Lys119*		128242256	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_Collagen	p.K119*	ENST00000322313.4	37	c.355	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505200	0.85282	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8401	16.2507	0.82485	0.0:0.0:0.0:1.0	.	.	.	.	X	119;41;119;119	.	ENSP00000325377:K119X	K	-	1	0	WDR33	128242256	1.000000	0.71417	0.873000	0.34254	0.978000	0.69477	8.040000	0.89188	2.237000	0.73441	0.528000	0.53228	AAG	-	superfamily_WD40_like,HMMSmart_WD40		0.338	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	protein_coding	OTTHUMT00000331141.2	T	NM_018383		128242256	-1	no_errors	NM_018383	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	A
BCORL1	63035	genome.wustl.edu	37	X	129147721	129147721	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:129147721G>T	ENST00000218147.7	+	4	1170	c.973G>T	c.(973-975)Gct>Tct	p.A325S	BCORL1_ENST00000303743.5_Missense_Mutation_p.A325S|BCORL1_ENST00000540052.1_Missense_Mutation_p.A325S|BCORL1_ENST00000359304.2_Missense_Mutation_p.A325S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	325	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						gcccccttcagctccgacctt	0.667																																																0			X											54.0	51.0	52.0					X																	129147721		2186	4260	6446	128975402	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.973G>T	X.37:g.129147721G>T	ENSP00000218147:p.Ala325Ser		128975402	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.A325S	ENST00000218147.7	37	c.973	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352826	0.41700	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.44482	0.93;1.3;0.92;0.93	3.79	3.79	0.43588	.	0.000000	0.33364	N	0.004989	T	0.34019	0.0883	N	0.08118	0	0.09310	N	0.999998	D;D	0.61697	0.99;0.982	P;P	0.53146	0.719;0.528	T	0.24404	-1.0161	9	.	.	.	-10.3461	15.561	0.76244	0.0:0.0:1.0:0.0	.	325;325	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	S	325	ENSP00000218147:A325S;ENSP00000307541:A325S;ENSP00000352253:A325S;ENSP00000437775:A325S	.	A	+	1	0	BCORL1	128975402	0.614000	0.27017	0.678000	0.29963	0.770000	0.43624	2.841000	0.48223	2.145000	0.66743	0.529000	0.55759	GCT	-	NULL		0.667	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	G	NM_021946		128975402	+1	no_errors	NM_021946	genbank	human	validated	54_36p	missense	SNP	0.058	T
PLK4	10733	genome.wustl.edu	37	4	128813634	128813634	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr4:128813634C>A	ENST00000270861.5	+	10	2427	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	PLK4_ENST00000507249.1_Missense_Mutation_p.S657Y|PLK4_ENST00000513090.1_Missense_Mutation_p.S686Y|PLK4_ENST00000515069.1_Missense_Mutation_p.S640Y|PLK4_ENST00000514379.1_Missense_Mutation_p.S677Y|RNU6-583P_ENST00000516012.1_RNA	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	718					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGGAGAATTCTCCTGGTGCT	0.318																																					Colon(135;508 1718 19061 31832 42879)											0			4											150.0	138.0	142.0					4																	128813634		2202	4300	6502	129033084	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2153C>A	4.37:g.128813634C>A	ENSP00000270861:p.Ser718Tyr		129033084	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_Sak_Polo,superfamily_SSF82615	p.S718Y	ENST00000270861.5	37	c.2153	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253542	0.22965	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.42	5.42	0.78866	.	0.168733	0.53938	D	0.000042	T	0.42607	0.1210	L	0.55103	1.725	0.44871	D	0.997885	D;D	0.65815	0.995;0.991	D;P	0.63113	0.911;0.817	T	0.26780	-1.0093	10	0.02654	T	1	-7.1128	14.7751	0.69726	0.0:0.8558:0.1442:0.0	.	686;718	O00444-2;O00444	.;PLK4_HUMAN	Y	718;640;686;657;677	ENSP00000270861:S718Y;ENSP00000421774:S640Y;ENSP00000427554:S686Y;ENSP00000423412:S657Y;ENSP00000423582:S677Y	ENSP00000270861:S718Y	S	+	2	0	PLK4	129033084	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.644000	0.61397	2.536000	0.85505	0.313000	0.20887	TCT	-	superfamily_Kinase_like		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	protein_coding	OTTHUMT00000257095.3	C			129033084	+1	no_errors	NM_014264	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
LAMA2	3908	genome.wustl.edu	37	6	129478561	129478561	+	Intron	SNP	A	A	G	rs13196461		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:129478561A>G	ENST00000421865.2	+	8	1255					NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTAGTGAAGAAAGAGTCTGAG	0.388																																																0			6																																								129520254	SO:0001627	intron_variant	643778			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1206+2733A>G	6.37:g.129478561A>G			129520254	Q14736|Q5VUM2|Q93022	RNA	SNP	-	NULL	ENST00000421865.2	37	NULL	CCDS5138.1	6																																																																																			-	-		0.388	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC643778	protein_coding	OTTHUMT00000042180.1	A			129520254	-1	pseudogene	XR_017181	genbank	human	model	54_36p	rna	SNP	0.627	G
TSC1	7248	genome.wustl.edu	37	9	135779829	135779829	+	Silent	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr9:135779829G>T	ENST00000298552.3	-	16	2231	c.2010C>A	c.(2008-2010)ccC>ccA	p.P670P	TSC1_ENST00000545250.1_Silent_p.P619P|TSC1_ENST00000440111.2_Silent_p.P670P	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	670					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGACTTGCTGGGTAAAGGCA	0.423			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)	9											68.0	65.0	66.0					9																	135779829		2203	4300	6503	134769650	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2010C>A	9.37:g.135779829G>T			134769650	B7Z897|Q5VVN5	Silent	SNP	HMMPfam_Hamartin	p.P670	ENST00000298552.3	37	c.2010	CCDS6956.1	9																																																																																			-	HMMPfam_Hamartin		0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	protein_coding	OTTHUMT00000054799.1	G			134769650	-1	no_errors	NM_000368	genbank	human	validated	54_36p	silent	SNP	1.000	T
CREB3L2	64764	genome.wustl.edu	37	7	137613044	137613044	+	Silent	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:137613044G>C	ENST00000330387.6	-	2	522	c.171C>G	c.(169-171)ctC>ctG	p.L57L	CREB3L2_ENST00000452463.1_Silent_p.L57L|CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000456390.1_Silent_p.L57L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	57					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCTTCTCTGAGAGGAAAGGAT	0.537			T	FUS	fibromyxoid sarcoma																																		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0			7											57.0	51.0	53.0					7																	137613044		2203	4300	6503	137263584	SO:0001819	synonymous_variant	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.171C>G	7.37:g.137613044G>C			137263584	Q6P454|Q6ZMR6	Silent	SNP	superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC	p.L57	ENST00000330387.6	37	c.171	CCDS34760.1	7																																																																																			-	NULL		0.537	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	protein_coding	OTTHUMT00000341462.1	G	NM_194071		137263584	-1	no_errors	NM_194071	genbank	human	validated	54_36p	silent	SNP	1.000	C
MROH5	389690	genome.wustl.edu	37	8	142446129	142446129	+	RNA	SNP	C	C	G	rs201798646	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:142446129C>G	ENST00000606664.1	+	0	1485				MROH5_ENST00000430863.1_RNA																							ACCAGGTCCCCGAACAGTGCC	0.667													C|||	16	0.00319489	0.0121	0.0	5008	,	,		17837	0.0		0.0	False		,,,				2504	0.0															0			8							ARG/GLY	32,4190		1,30,2080	31.0	38.0	36.0		3439	3.3	1.0	8		36	1,8409		0,1,4204	yes	missense	FLJ43860	NM_207414.2	125	1,31,6284	GG,GC,CC		0.0119,0.7579,0.2612	probably-damaging	1147/1319	142446129	33,12599	2111	4205	6316	142515311			389690																															8.37:g.142446129C>G			142515311		Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT	p.G1147R	ENST00000606664.1	37	c.3439		8																																																																																			-	superfamily_ARM repeat		0.667	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	FLJ43860	antisense	OTTHUMT00000470872.1	C			142515311	-1	pseudogene	NM_207414	genbank	human	validated	54_36p	missense	SNP	0.994	G
GPAA1	8733	genome.wustl.edu	37	8	145140382	145140382	+	Splice_Site	SNP	G	G	A	rs374430537		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:145140382G>A	ENST00000355091.4	+	10	1572	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	GPAA1_ENST00000361036.6_Splice_Site_p.R424Q	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	484					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AATACCCACCGGTAAGAGGCT	0.607																																																0			8						G	GLN/ARG	0,4116		0,0,2058	37.0	42.0	40.0		1451	4.1	0.9	8		40	1,8403		0,1,4201	no	missense-near-splice	GPAA1	NM_003801.3	43	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	484/622	145140382	1,12519	2058	4202	6260	145212370	SO:0001630	splice_region_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1451+1G>A	8.37:g.145140382G>A			145212370	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	HMMPfam_Gaa1	p.R484Q	ENST00000355091.4	37	c.1451	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468617	0.63625	0.0	1.19E-4	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.0	4.13	0.48395	.	0.265447	0.34291	N	0.004100	T	0.67524	0.2902	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	P	0.59056	0.851	T	0.65928	-0.6049	9	0.27785	T	0.31	-5.0835	11.2809	0.49195	0.0887:0.0:0.9113:0.0	.	484	O43292	GPAA1_HUMAN	Q	484;424	.	ENSP00000347206:R484Q	R	+	2	0	GPAA1	145212370	1.000000	0.71417	0.947000	0.38551	0.162000	0.22319	6.459000	0.73513	1.340000	0.45581	0.655000	0.94253	CGG	-	HMMPfam_Gaa1		0.607	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	protein_coding	OTTHUMT00000384070.1	G	NM_003801	Missense_Mutation	145212370	+1	no_errors	NM_003801	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF16	7564	genome.wustl.edu	37	8	146171450	146171450	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr8:146171450G>C	ENST00000276816.4	-	3	329	c.143C>G	c.(142-144)cCc>cGc	p.P48R	ZNF16_ENST00000394909.2_Missense_Mutation_p.P48R	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	48					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACTACAGCAGGGGGTACCACA	0.587																																																0			8											82.0	78.0	80.0					8																	146171450		2203	4300	6503	146142254	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.143C>G	8.37:g.146171450G>C	ENSP00000276816:p.Pro48Arg		146142254	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P48R	ENST00000276816.4	37	c.143	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.786135	0.02907	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.45668	3.18;3.18;4.61;0.89	3.44	-0.734	0.11140	.	.	.	.	.	T	0.17450	0.0419	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.17930	-1.0353	9	0.28530	T	0.3	.	2.3879	0.04370	0.5179:0.0:0.2526:0.2295	.	48	P17020	ZNF16_HUMAN	R	48	ENSP00000276816:P48R;ENSP00000378369:P48R;ENSP00000434321:P48R;ENSP00000432755:P48R	ENSP00000276816:P48R	P	-	2	0	ZNF16	146142254	0.152000	0.22762	0.001000	0.08648	0.057000	0.15508	0.084000	0.14891	-0.075000	0.12798	-0.290000	0.09829	CCC	-	NULL		0.587	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146142254	-1	no_errors	NM_001029976	genbank	human	reviewed	54_36p	missense	SNP	0.001	C
CGN	57530	genome.wustl.edu	37	1	151508126	151508126	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:151508126C>A	ENST00000271636.7	+	17	3178	c.3045C>A	c.(3043-3045)gaC>gaA	p.D1015E		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1009					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGGCAGGACCTGGAGTGTG	0.567																																																0			1											78.0	72.0	74.0					1																	151508126		2203	4300	6503	149774750	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3045C>A	1.37:g.151508126C>A	ENSP00000271636:p.Asp1015Glu		149774750	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	HMMPfam_Myosin_tail_1	p.D1015E	ENST00000271636.7	37	c.3045	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075902	0.76415	.	.	ENSG00000143375	ENST00000271636	T	0.76839	-1.05	5.3	2.46	0.29980	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.68317	2.08	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	T	0.78942	-0.2005	10	0.62326	D	0.03	-30.4412	7.8194	0.29280	0.0:0.6832:0.0:0.3168	.	1009	Q9P2M7	CING_HUMAN	E	1015	ENSP00000271636:D1015E	ENSP00000271636:D1015E	D	+	3	2	CGN	149774750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.439000	0.35013	0.395000	0.25257	0.563000	0.77884	GAC	-	HMMPfam_Myosin_tail_1		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	protein_coding	OTTHUMT00000034900.3	C	NM_020770		149774750	+1	no_errors	NM_020770	genbank	human	validated	54_36p	missense	SNP	1.000	A
PASD1	139135	genome.wustl.edu	37	X	150840811	150840811	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chrX:150840811C>A	ENST00000370357.4	+	14	1839	c.1594C>A	c.(1594-1596)Ctg>Atg	p.L532M		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	532	Lys-rich.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					gaagaagaagctgcaggagca	0.532													C|||	1	0.000264901	0.0	0.0	3775	,	,		15139	0.001		0.0	False		,,,				2504	0.0															0			X											42.0	44.0	43.0					X																	150840811		2192	4274	6466	150591467	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1594C>A	X.37:g.150840811C>A	ENSP00000359382:p.Leu532Met		150591467	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain)	p.L532M	ENST00000370357.4	37	c.1594	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	C	7.315	0.615814	0.14129	.	.	ENSG00000166049	ENST00000370357	T	0.69040	-0.37	1.29	1.29	0.21616	.	.	.	.	.	T	0.47857	0.1468	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.47786	0.557	T	0.37478	-0.9704	9	0.66056	D	0.02	.	5.5087	0.16868	0.0:1.0:0.0:0.0	.	532	Q8IV76	PASD1_HUMAN	M	532	ENSP00000359382:L532M	ENSP00000359382:L532M	L	+	1	2	PASD1	150591467	0.001000	0.12720	0.002000	0.10522	0.060000	0.15804	0.290000	0.18975	0.921000	0.36994	0.284000	0.19432	CTG	-	NULL		0.532	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	protein_coding	OTTHUMT00000060879.2	C	NM_173493		150591467	+1	no_errors	NM_173493	genbank	human	validated	54_36p	missense	SNP	0.670	A
ADAMTS4	9507	genome.wustl.edu	37	1	161161302	161161302	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:161161302C>A	ENST00000367996.5	-	9	2568	c.2140G>T	c.(2140-2142)Gtc>Ttc	p.V714F	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	714	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGCTGCCGGACAAGAATGTGG	0.582																																																0			1											62.0	66.0	64.0					1																	161161302		2203	4300	6503	159427926	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2140G>T	1.37:g.161161302C>A	ENSP00000356975:p.Val714Phe		159427926	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.V714F	ENST00000367996.5	37	c.2140	CCDS1223.1	1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096181	0.56075	.	.	ENSG00000158859	ENST00000367996	T	0.60424	0.19	4.39	2.39	0.29439	ADAM-TS Spacer 1 (1);	0.331275	0.25238	N	0.032103	T	0.48466	0.1501	M	0.75447	2.3	0.80722	D	1	P	0.48016	0.904	P	0.48952	0.596	T	0.52808	-0.8526	10	0.87932	D	0	.	6.19	0.20518	0.0:0.5717:0.0:0.4283	.	714	O75173	ATS4_HUMAN	F	714	ENSP00000356975:V714F	ENSP00000356975:V714F	V	-	1	0	ADAMTS4	159427926	0.021000	0.18746	0.933000	0.37362	0.826000	0.46750	0.280000	0.18790	0.518000	0.28383	-0.367000	0.07326	GTC	-	HMMPfam_ADAM_spacer1		0.582	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	protein_coding	OTTHUMT00000083066.2	C	NM_005099		159427926	-1	no_errors	NM_005099	genbank	human	reviewed	54_36p	missense	SNP	0.465	A
PLG	5340	genome.wustl.edu	37	6	161152920	161152920	+	Nonsense_Mutation	SNP	A	A	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr6:161152920A>T	ENST00000308192.9	+	12	1645	c.1582A>T	c.(1582-1584)Aaa>Taa	p.K528*		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	528	Kringle 5. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGTCTGGAAAAAAATGTAAG	0.493																																																0			6											71.0	82.0	78.0					6																	161152920		2203	4300	6503	161072910	SO:0001587	stop_gained	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1582A>T	6.37:g.161152920A>T	ENSP00000308938:p.Lys528*		161072910	Q15146|Q5TEH4|Q6PA00	Nonsense_Mutation	SNP	HMMPfam_PAN_1,superfamily_SSF57414,HMMSmart_PAN_AP,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.K528*	ENST00000308192.9	37	c.1582	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	A	32	5.189652	0.94923	.	.	ENSG00000122194	ENST00000308192	.	.	.	4.47	-2.83	0.05769	.	0.372159	0.19033	U	0.124497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6542	0.22979	0.2596:0.1985:0.542:0.0	.	.	.	.	X	528	.	ENSP00000308938:K528X	K	+	1	0	PLG	161072910	0.003000	0.15002	0.295000	0.24960	0.903000	0.53119	-0.125000	0.10579	-0.394000	0.07727	-0.385000	0.06624	AAA	-	HMMSmart_KR,superfamily_Kringle-like,HMMPfam_Kringle		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	protein_coding	OTTHUMT00000042959.2	A	NM_000301		161072910	+1	no_errors	NM_000301	genbank	human	validated	54_36p	nonsense	SNP	0.387	T
TTN	7273	genome.wustl.edu	37	2	179408637	179408637	+	Nonsense_Mutation	SNP	G	G	C	rs376532382		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:179408637G>C	ENST00000591111.1	-	296	91535	c.91311C>G	c.(91309-91311)taC>taG	p.Y30437*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y23138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y23013*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y32078*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y23205*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y29510*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30437	Ig-like 137.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGCATCGTACCGATTAA	0.413																																																0			2											174.0	159.0	164.0					2																	179408637		1927	4140	6067	179116883	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91311C>G	2.37:g.179408637G>C	ENSP00000465570:p.Tyr30437*		179116883	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.Y28059*	ENST00000591111.1	37	c.84177		2	.	.	.	.	.	.	.	.	.	.	G	76	131.073136	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.85	-7.11	0.01542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3661	0.90391	0.4042:0.0:0.5958:0.0	.	.	.	.	X	29510;23013;23205;23138;23010	.	ENSP00000340554:Y23205X	Y	-	3	2	TTN	179116883	0.027000	0.19231	0.871000	0.34182	0.996000	0.88848	-0.385000	0.07379	-1.350000	0.02199	-0.238000	0.12139	TAC	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_I-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00408		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179116883	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	nonsense	SNP	0.988	C
TTN	7273	genome.wustl.edu	37	2	179454536	179454536	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:179454536T>A	ENST00000591111.1	-	254	57217	c.56993A>T	c.(56992-56994)tAt>tTt	p.Y18998F	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y11699F|TTN_ENST00000460472.2_Missense_Mutation_p.Y11574F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y20639F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y11766F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y18071F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18998	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCGGAAATAGTATTCATT	0.418																																																0			2											197.0	186.0	190.0					2																	179454536		1871	4095	5966	179162782	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56993A>T	2.37:g.179454536T>A	ENSP00000465570:p.Tyr18998Phe		179162782	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.Y16620F	ENST00000591111.1	37	c.49859		2	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780119	0.31502	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.1	4.89	0.63831	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31420	0.0796	N	0.05230	-0.09	0.33222	D	0.554802	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.37753	-0.9692	9	0.87932	D	0	.	9.4228	0.38561	0.3044:0.0:0.0:0.6956	.	11574;11699;11766;18998	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	18071;11574;11766;11699;11572	ENSP00000343764:Y18071F;ENSP00000434586:Y11574F;ENSP00000340554:Y11766F;ENSP00000352154:Y11699F	ENSP00000340554:Y11766F	Y	-	2	0	TTN	179162782	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.765000	0.74965	2.340000	0.79590	0.528000	0.53228	TAT	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179162782	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	A
ZNF804A	91752	genome.wustl.edu	37	2	185731240	185731240	+	Splice_Site	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:185731240G>C	ENST00000302277.6	+	2	849		c.e2+1			NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A								metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCACAAGCAGGTAAGAAAGAG	0.323																																																0			2											60.0	60.0	60.0					2																	185731240		2203	4299	6502	185439485	SO:0001630	splice_region_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.255+1G>C	2.37:g.185731240G>C			185439485	A7E253|Q6ZN26	Splice_Site	SNP	-	e2+1	ENST00000302277.6	37	c.255+1	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731820	0.89390	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.892	0.92408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF804A	185439485	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.750000	0.98875	2.767000	0.95098	0.591000	0.81541	.	-	-		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	protein_coding	OTTHUMT00000255871.1	G	NM_194250	Intron	185439485	+1	no_errors	NM_194250	genbank	human	provisional	54_36p	splice_site	SNP	1.000	C
USH2A	7399	genome.wustl.edu	37	1	216373352	216373352	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:216373352G>T	ENST00000307340.3	-	17	3814	c.3428C>A	c.(3427-3429)aCa>aAa	p.T1143K	USH2A_ENST00000366942.3_Missense_Mutation_p.T1143K|USH2A_ENST00000366943.2_Missense_Mutation_p.T1143K|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1143	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCTGGTTTTGTCTTGTAAGT	0.408										HNSCC(13;0.011)																																						0			1											98.0	96.0	97.0					1																	216373352		2203	4300	6503	214439975	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3428C>A	1.37:g.216373352G>T	ENSP00000305941:p.Thr1143Lys		214439975	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2	p.T1143K	ENST00000307340.3	37	c.3428	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403345	0.83230	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.88586	-2.4;-0.14;-0.14	6.02	5.11	0.69529	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000311	D	0.94548	0.8244	M	0.84219	2.685	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.95006	0.8147	10	0.62326	D	0.03	.	15.0299	0.71698	0.0677:0.0:0.9323:0.0	.	1143;1143	O75445-2;O75445	.;USH2A_HUMAN	K	1143	ENSP00000305941:T1143K;ENSP00000355910:T1143K;ENSP00000355909:T1143K	ENSP00000305941:T1143K	T	-	2	0	USH2A	214439975	1.000000	0.71417	0.455000	0.27031	0.931000	0.56810	6.318000	0.72866	1.554000	0.49487	0.655000	0.94253	ACA	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_Fibronectin type III		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	G	NM_007123		214439975	-1	no_errors	NM_206933	genbank	human	reviewed	54_36p	missense	SNP	0.987	T
INPP5D	3635	genome.wustl.edu	37	2	234085947	234085947	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:234085947C>A	ENST00000359570.5	+	20	1990	c.1990C>A	c.(1990-1992)Ctc>Atc	p.L664I	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.L428I|INPP5D_ENST00000450745.1_Missense_Mutation_p.L428I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	676					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGACCGAGTCCTCTGGAAGTC	0.428																																					NSCLC(82;1215 1426 16163 20348 41018)											0			2											163.0	159.0	161.0					2																	234085947		1972	4167	6139	233750686	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1990C>A	2.37:g.234085947C>A	ENSP00000352575:p.Leu664Ile		233750686	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF55550,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos	p.L632I	ENST00000359570.5	37	c.1894		2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249731	0.80024	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.11	5.11	0.69529	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.143561	0.48286	D	0.000190	D	0.92548	0.7633	.	.	.	0.44477	D	0.997415	P;D	0.53745	0.953;0.962	D;D	0.67231	0.917;0.95	D	0.93500	0.6843	9	0.87932	D	0	.	18.591	0.91212	0.0:1.0:0.0:0.0	.	675;676	Q92835-2;Q92835	.;SHIP1_HUMAN	I	664;428;428;297;297;297	ENSP00000352575:L664I;ENSP00000407916:L428I;ENSP00000404610:L428I;ENSP00000400151:L297I;ENSP00000397421:L297I;ENSP00000405338:L297I	ENSP00000352575:L664I	L	+	1	0	INPP5D	233750686	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.698000	0.68302	2.384000	0.81235	0.456000	0.33151	CTC	-	superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos		0.428	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	protein_coding		C	NM_001017915		233750686	+1	no_errors	ENST00000359570	ensembl	human	known	54_36p	missense	SNP	1.000	A
TFB2M	64216	genome.wustl.edu	37	1	246704467	246704467	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:246704467G>C	ENST00000366514.4	-	8	1242	c.1057C>G	c.(1057-1059)Caa>Gaa	p.Q353E		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	353					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTCCTATTTGCATCAATATA	0.353																																																0			1											104.0	89.0	94.0					1																	246704467		2203	4300	6503	244771090	SO:0001583	missense	64216			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1057C>G	1.37:g.246704467G>C	ENSP00000355471:p.Gln353Glu		244771090	Q9H626	Missense_Mutation	SNP	PatternScan_RRNA_A_DIMETH,superfamily_SSF53335,HMMPfam_RrnaAD	p.Q353E	ENST00000366514.4	37	c.1057	CCDS1627.1	1	.	.	.	.	.	.	.	.	.	.	G	9.489	1.100112	0.20552	.	.	ENSG00000162851	ENST00000366514	T	0.27104	1.69	5.1	0.771	0.18504	.	0.699906	0.13996	N	0.348498	T	0.21801	0.0525	L	0.48362	1.52	0.09310	N	0.999999	B	0.27932	0.194	B	0.27170	0.077	T	0.22034	-1.0228	10	0.16896	T	0.51	-3.9562	13.6172	0.62115	0.0:0.0:0.3381:0.6619	.	353	Q9H5Q4	TFB2M_HUMAN	E	353	ENSP00000355471:Q353E	ENSP00000355471:Q353E	Q	-	1	0	TFB2M	244771090	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	-1.489000	0.02306	-0.039000	0.13602	0.557000	0.71058	CAA	-	superfamily_SSF53335,HMMPfam_RrnaAD		0.353	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB2M	protein_coding	OTTHUMT00000096673.1	G	NM_022366		244771090	-1	no_errors	NM_022366	genbank	human	validated	54_36p	missense	SNP	0.003	C
ZNF669	79862	genome.wustl.edu	37	1	247264389	247264389	+	Missense_Mutation	SNP	C	C	T	rs563768242		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:247264389C>T	ENST00000343381.6	-	4	854	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	ZNF669_ENST00000366500.1_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.G142R|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000366501.1_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAGAATTTCCCACACTGTTCA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		21351	0.0		0.0	False		,,,				2504	0.001															0			1											135.0	128.0	130.0					1																	247264389		2203	4300	6503	245331012	SO:0001583	missense	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.682G>A	1.37:g.247264389C>T	ENSP00000342818:p.Gly228Arg		245331012	B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2	p.G228R	ENST00000343381.6	37	c.682	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966592	0.34659	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.22743	1.94;1.94	0.719	-0.666	0.11399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41096	0.1144	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28459	-1.0043	9	0.87932	D	0	.	6.1951	0.20546	0.0:0.6819:0.3181:0.0	.	142;228	B3KP94;Q96BR6	.;ZN669_HUMAN	R	142;142;228	ENSP00000404370:G142R;ENSP00000342818:G228R	ENSP00000342818:G228R	G	-	1	0	ZNF669	245331012	0.065000	0.20965	0.001000	0.08648	0.001000	0.01503	0.324000	0.19610	-0.236000	0.09753	-0.533000	0.04299	GGG	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.378	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	protein_coding	OTTHUMT00000098394.4	C	NM_024804		245331012	-1	no_errors	NM_024804	genbank	human	validated	54_36p	missense	SNP	0.995	T
OR2T3	343173	genome.wustl.edu	37	1	248636745	248636745	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:248636745C>A	ENST00000359594.2	+	1	119	c.94C>A	c.(94-96)Ctc>Atc	p.L32I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGCCCTCCTCTACACCGT	0.547																																																0			1											35.0	22.0	27.0					1																	248636745		2190	4208	6398	246703368	SO:0001583	missense	343173				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.94C>A	1.37:g.248636745C>A	ENSP00000352604:p.Leu32Ile		246703368	B2RNJ1	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L32I	ENST00000359594.2	37	c.94	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.659631	0.29515	.	.	ENSG00000196539	ENST00000359594	T	0.16457	2.34	2.89	-5.78	0.02362	.	.	.	.	.	T	0.16727	0.0402	L	0.56396	1.775	0.09310	N	1	P	0.41041	0.736	B	0.40741	0.339	T	0.04191	-1.0970	9	0.62326	D	0.03	.	9.5064	0.39048	0.0:0.3722:0.5348:0.0931	.	32	Q8NH03	OR2T3_HUMAN	I	32	ENSP00000352604:L32I	ENSP00000352604:L32I	L	+	1	0	OR2T3	246703368	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.243000	0.08915	-2.200000	0.00747	0.186000	0.17326	CTC	-	superfamily_SSF81321		0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	protein_coding	OTTHUMT00000097348.1	C	NM_001005495		246703368	+1	no_errors	NM_001005495	genbank	human	provisional	54_36p	missense	SNP	0.201	A
OR14I1	401994	genome.wustl.edu	37	1	248845156	248845156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:248845156G>T	ENST00000342623.3	-	1	473	c.450C>A	c.(448-450)tgC>tgA	p.C150*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CGTAGGAAAAGCAGCTTAGCC	0.537																																																0			1											93.0	81.0	85.0					1																	248845156		2203	4300	6503	246911779	SO:0001587	stop_gained	401994				CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.450C>A	1.37:g.248845156G>T	ENSP00000339726:p.Cys150*		246911779		Nonsense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.C150*	ENST00000342623.3	37	c.450	CCDS31125.1	1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629999	0.28978	.	.	ENSG00000189181	ENST00000342623	.	.	.	3.48	-6.96	0.01622	.	0.324282	0.22755	N	0.056029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	2.2994	0.04158	0.3053:0.2093:0.3797:0.1056	.	.	.	.	X	150	.	ENSP00000339726:C150X	C	-	3	2	OR14I1	246911779	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.439000	0.01016	-1.965000	0.01010	-1.318000	0.01297	TGC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.537	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14I1	protein_coding	OTTHUMT00000097128.1	G	NM_001004734		246911779	-1	no_errors	NM_001004734	genbank	human	provisional	54_36p	nonsense	SNP	0.000	T
DEAF1	10522	genome.wustl.edu	37	11	675163	675165	+	Intron	DEL	CAA	CAA	-	rs35881834|rs374984749	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CAA	CAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr11:675163_675165delCAA	ENST00000382409.3	-	10	1740				RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_Intron|DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor						anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		ccagcctgggcaacagagtgaga	0.458														2642	0.527556	0.2935	0.5317	5008	,	,		13271	0.7202		0.5726	False		,,,				2504	0.5961															0			11																																								665165	SO:0001627	intron_variant	0			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1256-380TTG>-	11.37:g.675163_675165delCAA			665163	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	In_Frame_Del	DEL	NULL	p.V797in_frame_del	ENST00000382409.3	37	c.2392_2390	CCDS31327.1	11																																																																																			(deletion:cds_exon[663912,667554])	NULL		0.458	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133432	protein_coding	OTTHUMT00000383614.3	CAA	NM_021008		665165	-1	no_start_codon:pseudogene:no_stop_codon	XM_001714734	genbank	human	model	54_36p	in_frame_del	DEL	0.000:0.000:0.000	-
TP53	7157	genome.wustl.edu	37	17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-	rs587780067		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CA	CA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs	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	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (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.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGTGCAAGTCACAGACTTGGC	0.554		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"""	23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(1)	17	GRCh37	CM065494	TP53	M																																				7520047	SO:0001589	frameshift_variant	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.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs		7520046	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	Frame_Shift_Del	DEL	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.V122fs	ENST00000269305.4	37	c.366_365	CCDS11118.1	17																																																																																			(deletion:cds_exon[7520037,7520315])	HMMPfam_P53,superfamily_p53-like transcription factors		0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	CA	NM_000546		7520047	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.615:0.928	-
SLC7A7	9056	genome.wustl.edu	37	14	23240265	23240289	+	IGR	DEL	CCTGGTCCAAGTATCCTGTCTCCGG	CCTGGTCCAAGTATCCTGTCTCCGG	-	rs548170952|rs375270103		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CCTGGTCCAAGTATCCTGTCTCCGG	CCTGGTCCAAGTATCCTGTCTCCGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr14:23240265_23240289delCCTGGTCCAAGTATCCTGTCTCCGG	ENST00000397532.3	-	0	2447				OXA1L_ENST00000285848.5_Frame_Shift_Del_p.SLVQVSCLR386fs|OXA1L_ENST00000358043.5_Frame_Shift_Del_p.SLVQVSCLR310fs|OXA1L_ENST00000412791.1_Frame_Shift_Del_p.SLVQVSCLR326fs|OXA1L_ENST00000604262.1_Frame_Shift_Del_p.SLVQVSCLR326fs|SLC7A7_ENST00000554061.1_5'Flank			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ATTTGTTTTCCCTGGTCCAAGTATCCTGTCTCCGGATTCCAGCAG	0.498																																																0			14																																								22310129	SO:0001628	intergenic_variant	5018			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240265_23240289delCCTGGTCCAAGTATCCTGTCTCCGG			22310105	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Frame_Shift_Del	DEL	HMMPfam_60KD_IMP	p.L387fs	ENST00000397532.3	37	c.1158_1182	CCDS9574.1	14																																																																																			(deletion:cds_exon[22310067,22310229])	HMMPfam_60KD_IMP		0.498	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OXA1L	protein_coding	OTTHUMT00000071636.3	CCTGGTCCAAGTATCCTGTCTCCGG			22310129	+1	no_errors	NM_005015	genbank	human	validated	54_36p	frame_shift_del	DEL	0.999:1.000:1.000:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:0.991:0.974:0.973:0.964:0.976:0.998:0.998:1.000:1.000:0.994:1.000:1.000:0.955	-
WIPF3	644150	genome.wustl.edu	37	7	29944001	29944027	+	Intron	DEL	GAATGTAAAACCAGGAATTCTCCTCAG	GAATGTAAAACCAGGAATTCTCCTCAG	-	rs34334657		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	GAATGTAAAACCAGGAATTCTCCTCAG	GAATGTAAAACCAGGAATTCTCCTCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr7:29944001_29944027delGAATGTAAAACCAGGAATTCTCCTCAG	ENST00000409290.1	+	7	1428				WIPF3_ENST00000409123.1_Stop_Codon_Del|WIPF3_ENST00000242140.5_Stop_Codon_Del	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3						cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TCATGTCTCTGAATGTAAAACCAGGAATTCTCCTCAGGAGGCACAGA	0.476																																																0			7																																								29910552	SO:0001627	intron_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.1428+23GAATGTAAAACCAGGAATTCTCCTCAG>-	7.37:g.29944001_29944027delGAATGTAAAACCAGGAATTCTCCTCAG			29910526	B8ZZV2	Frame_Shift_Del	DEL	HMMPfam_WH2,HMMSmart_WH2	p.*484fs	ENST00000409290.1	37	c.1451_1452	CCDS56472.1	7																																																																																			(deletion:cds_exon[29910427,29910527], utr_exon[29910528,29912316])	NULL		0.476	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	WIPF3	protein_coding	OTTHUMT00000327705.1	GAATGTAAAACCAGGAATTCTCCTCAG			29910552	+1	no_errors	NM_001080529	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.011:0.011	-
WDR48	57599	genome.wustl.edu	37	3	39129652	39129668	+	Frame_Shift_Del	DEL	GAAATGGATATTTTCAA	GAAATGGATATTTTCAA	-			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	GAAATGGATATTTTCAA	GAAATGGATATTTTCAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:39129652_39129668delGAAATGGATATTTTCAA	ENST00000302313.5	+	15	1536_1552	c.1508_1524delGAAATGGATATTTTCAA	c.(1507-1524)ggaaatggatattttcaafs	p.GNGYFQ503fs	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Frame_Shift_Del_p.GNGYFQ228fs|WDR48_ENST00000396258.3_Frame_Shift_Del_p.GNGYFQ421fs	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	503					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GTGCAGAAGGGAAATGGATATTTTCAAGTGCCCCCAC	0.442																																																0			3																																								39104672	SO:0001589	frameshift_variant	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1508_1524delGAAATGGATATTTTCAA	3.37:g.39129652_39129668delGAAATGGATATTTTCAA	ENSP00000307491:p.Gly503fs		39104656	B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Frame_Shift_Del	DEL	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.N504fs	ENST00000302313.5	37	c.1508_1524	CCDS33738.1	3																																																																																			(deletion:cds_exon[39104623,39104728])	NULL		0.442	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	protein_coding	OTTHUMT00000342529.1	GAAATGGATATTTTCAA	NM_020839		39104672	+1	no_errors	NM_020839	genbank	human	provisional	54_36p	frame_shift_del	DEL	1.000:0.998:1.000:1.000:1.000:1.000:0.998:0.058:0.990:0.999:0.995:1.000:1.000:1.000:1.000:1.000:0.974	-
MACF1	23499	genome.wustl.edu	37	1	39898770	39898796	+	In_Frame_Del	DEL	CAGTCACCGTAGTGAAATCTTTGGCAC	CAGTCACCGTAGTGAAATCTTTGGCAC	-	rs139726571|rs371189732|rs540201946		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CAGTCACCGTAGTGAAATCTTTGGCAC	CAGTCACCGTAGTGAAATCTTTGGCAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr1:39898770_39898796delCAGTCACCGTAGTGAAATCTTTGGCAC	ENST00000372915.3	+	66	17283_17309	c.17196_17222delCAGTCACCGTAGTGAAATCTTTGGCAC	c.(17194-17223)ttcagtcaccgtagtgaaatctttggcaca>tta	p.5732_5741FSHRSEIFGT>L	MACF1_ENST00000361689.2_In_Frame_Del_p.3774_3783FSHRSEIFGT>L|MACF1_ENST00000539005.1_In_Frame_Del_p.3644_3653FSHRSEIFGT>L|MACF1_ENST00000545844.1_In_Frame_Del_p.3774_3783FSHRSEIFGT>L|MACF1_ENST00000567887.1_In_Frame_Del_p.5873_5882FSHRSEIFGT>L|MACF1_ENST00000564288.1_In_Frame_Del_p.5836_5845FSHRSEIFGT>L|MACF1_ENST00000289893.4_In_Frame_Del_p.4276_4285FSHRSEIFGT>L|MACF1_ENST00000317713.7_In_Frame_Del_p.3774_3783FSHRSEIFGT>L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5732					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAACTCTTCAGTCACCGTAGTGAAATCTTTGGCACATGTGGGGAG	0.348																																																0			1																																								39671383	SO:0001651	inframe_deletion	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17196_17222delCAGTCACCGTAGTGAAATCTTTGGCAC	1.37:g.39898770_39898796delCAGTCACCGTAGTGAAATCTTTGGCAC	ENSP00000362006:p.Phe5732_Thr5741delinsLeu		39671357	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Del	DEL	superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2	p.FSHRSEIFGT4276in_frame_delL	ENST00000372915.3	37	c.12828_12854		1																																																																																			(deletion:cds_exon[39671307,39671414])	HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin		0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	CAGTCACCGTAGTGAAATCTTTGGCAC	NM_033044		39671383	+1	no_errors	NM_033044	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:0.999:1.000:1.000:0.995:0.996:0.997:0.938:0.966:0.997:0.997:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.989:0.986:0.953	-
FSHR	2492	genome.wustl.edu	37	2	49190294	49190319	+	Frame_Shift_Del	DEL	CTGTGAGGTAGATGTGGATATAGCAG	CTGTGAGGTAGATGTGGATATAGCAG	-	rs200144377|rs368367400		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CTGTGAGGTAGATGTGGATATAGCAG	CTGTGAGGTAGATGTGGATATAGCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr2:49190294_49190319delCTGTGAGGTAGATGTGGATATAGCAG	ENST00000406846.2	-	10	1760_1785	c.1641_1666delCTGCTATATCCACATCTACCTCACAG	c.(1639-1668)ggctgctatatccacatctacctcacagtgfs	p.CYIHIYLTV548fs	FSHR_ENST00000541117.1_Frame_Shift_Del_p.CYIHIYLTV284fs|FSHR_ENST00000346173.3_Frame_Shift_Del_p.CYIHIYLTV486fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.CYIHIYLTV522fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	548					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.H551Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGGTTCCGCACTGTGAGGTAGATGTGGATATAGCAGCCACAGATGA	0.531									Gonadal Dysgenesis, 46 XX																																							1	Substitution - Missense(1)	lung(1)	2																																								49043823	SO:0001589	frameshift_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1641_1666delCTGCTATATCCACATCTACCTCACAG	2.37:g.49190294_49190319delCTGTGAGGTAGATGTGGATATAGCAG	ENSP00000384708:p.Cys548fs		49043798	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Frame_Shift_Del	DEL	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.C548fs	ENST00000406846.2	37	c.1666_1641	CCDS1843.1	2																																																																																			(deletion:cds_exon[49043376,49044609])	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.531	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	protein_coding	OTTHUMT00000251367.2	CTGTGAGGTAGATGTGGATATAGCAG			49043823	-1	no_errors	NM_000145	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:0.792:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.890:0.615:0.384:0.207:0.177:0.164:0.188:0.994:1.000:1.000:1.000:1.000:0.988	-
STAT6	6778	genome.wustl.edu	37	12	57501018	57501037	+	Frame_Shift_Del	DEL	TCCATAACAGCTTTTTTCTC	TCCATAACAGCTTTTTTCTC	-	rs570858641		TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	TCCATAACAGCTTTTTTCTC	TCCATAACAGCTTTTTTCTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr12:57501018_57501037delTCCATAACAGCTTTTTTCTC	ENST00000300134.3	-	4	641_660	c.316_335delGAGAAAAAAGCTGTTATGGA	c.(316-336)gagaaaaaagctgttatggaafs	p.EKKAVME106fs	STAT6_ENST00000454075.3_Frame_Shift_Del_p.EKKAVME106fs|STAT6_ENST00000537215.2_Start_Codon_Del|STAT6_ENST00000556155.1_Frame_Shift_Del_p.EKKAVME106fs|STAT6_ENST00000538913.2_Start_Codon_Del|STAT6_ENST00000543873.2_Frame_Shift_Del_p.EKKAVME106fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	106					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAATACCTGTTCCATAACAGCTTTTTTCTCTCCTTGAAGT	0.45																																																0			12																																								55787304	SO:0001589	frameshift_variant	6778			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.316_335delGAGAAAAAAGCTGTTATGGA	12.37:g.57501018_57501037delTCCATAACAGCTTTTTTCTC	ENSP00000300134:p.Glu106fs		55787285	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Frame_Shift_Del	DEL	superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,HMMPfam_STAT_alpha,superfamily_STAT,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2,HMMSmart_SM00252	p.E106fs	ENST00000300134.3	37	c.335_316	CCDS8931.1	12																																																																																			(deletion:cds_exon[55787281,55787364])	superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int		0.450	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	protein_coding	OTTHUMT00000412248.3	TCCATAACAGCTTTTTTCTC	NM_003153		55787304	-1	no_errors	NM_003153	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.998:1.000:1.000:1.000:0.999:0.999:1.000:1.000:1.000:1.000:1.000:0.997:0.996:0.997:0.998:1.000:1.000:1.000:1.000:1.000	-
NAIP	4671	genome.wustl.edu	37	5	70308541	70308571	+	Frame_Shift_Del	DEL	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	-	rs201454876|rs115486998	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr5:70308541_70308571delCAAAAGTCTTTAACCTTTTTGCTTCACTGCG	ENST00000517649.1	-	4	462_492	c.172_202delCGCAGTGAAGCAAAAAGGTTAAAGACTTTTG	c.(172-204)cgcagtgaagcaaaaaggttaaagacttttgtgfs	p.RSEAKRLKTFV58fs	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Frame_Shift_Del_p.RSEAKRLKTFV58fs|NAIP_ENST00000194097.4_Frame_Shift_Del_p.RSEAKRLKTFV58fs|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	58					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCATAAGTCACAAAAGTCTTTAACCTTTTTGCTTCACTGCGCATTTGAGAG	0.476																																																0			5																																								70344327	SO:0001589	frameshift_variant	4671			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.172_202delCGCAGTGAAGCAAAAAGGTTAAAGACTTTTG	5.37:g.70308541_70308571delCAAAAGTCTTTAACCTTTTTGCTTCACTGCG	ENSP00000428657:p.Arg58fs		70344297	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Frame_Shift_Del	DEL	superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_AAA,HMMPfam_NACHT,superfamily_SSF52047	p.R58fs	ENST00000517649.1	37	c.202_172	CCDS4009.1	5																																																																																			(deletion:cds_exon[70343931,70344498])	superfamily_SSF57924,HMMSmart_BIR		0.476	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	protein_coding	OTTHUMT00000372649.6	CAAAAGTCTTTAACCTTTTTGCTTCACTGCG	NM_004536		70344327	-1	no_errors	NM_004536	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.156:0.194:0.227:0.235:0.228:0.282:0.293:0.307:0.320:0.318:0.319:0.409:0.438:0.567:0.698:0.735:0.780:0.827:0.874:0.890:0.968:0.988:0.994:0.996:0.996:0.994:0.992:0.985:0.966:0.962:0.945	-
ROBO1	6091	genome.wustl.edu	37	3	78710285	78710303	+	Frame_Shift_Del	DEL	GGATTACCACACTGTTTTT	GGATTACCACACTGTTTTT	-	rs35446711|rs574447995|rs34515208	byFrequency	TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	GGATTACCACACTGTTTTT	GGATTACCACACTGTTTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr3:78710285_78710303delGGATTACCACACTGTTTTT	ENST00000464233.1	-	16	2310_2328	c.2197_2215delAAAAACAGTGTGGTAATCC	c.(2197-2217)aaaaacagtgtggtaatccctfs	p.KNSVVIP733fs	ROBO1_ENST00000436010.2_Frame_Shift_Del_p.KNSVVIP694fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.KNSVVIP697fs|ROBO1_ENST00000467549.1_Frame_Shift_Del_p.KNSVVIP697fs	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	733	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTGAGATCAGGGATTACCACACTGTTTTTGGCTGGCGTC	0.416																																																0			3																																								78792993	SO:0001589	frameshift_variant	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2197_2215delAAAAACAGTGTGGTAATCC	3.37:g.78710285_78710303delGGATTACCACACTGTTTTT	ENSP00000420321:p.Lys733fs		78792975	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.K733fs	ENST00000464233.1	37	c.2215_2197	CCDS54611.1	3																																																																																			(deletion:cds_exon[78792870,78793101])	superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.416	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	protein_coding	OTTHUMT00000352610.1	GGATTACCACACTGTTTTT	NM_002941		78792993	-1	no_errors	NM_002941	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:0.998:0.980:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.999:1.000:1.000:1.000:1.000:0.997	-
TAL2	6887	genome.wustl.edu	37	9	108424874	108424876	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-61-1900-01A-01W-0639-09	TCGA-61-1900-11A-01W-0640-09	CCT	CCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	0f0e8407-547e-4a27-a869-246a768a31d5	8b05f3a2-5815-433c-8120-924838ba5d4e	g.chr9:108424874_108424876delCCT	ENST00000334077.3	+	1	137_139	c.97_99delCCT	c.(97-99)cctdel	p.P34del		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	34	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										CCCCACTCACCCTCCAGACAAAA	0.507			T	TRB@	T-ALL																																		Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0			9																																								107464697	SO:0001651	inframe_deletion	6887				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"""Basic helix-loop-helix proteins"""	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.97_99delCCT	9.37:g.108424874_108424876delCCT	ENSP00000334547:p.Pro34del		107464695	A0AVI7	In_Frame_Del	DEL	HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH	p.P34in_frame_del	ENST00000334077.3	37	c.97_99	CCDS6767.1	9																																																																																			(deletion:cds_exon[107464599,107464925])	HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH		0.507	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAL2	protein_coding	OTTHUMT00000053504.1	CCT	NM_005421		107464697	+1	no_errors	NM_005421	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-
