#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_BAM_File	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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA12	26154	genome.wustl.edu	37	2	215818580	215818580	+	Silent	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr2:215818580G>A	ENST00000272895.7	-	44	6864	c.6645C>T	c.(6643-6645)ctC>ctT	p.L2215L	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.L1897L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2215					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATATTTACCTGAGTTTCTTTA	0.343																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													43.0	42.0	42.0					2																	215818580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6645C>T	2.37:g.215818580G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2215	ENST00000272895.7	37	c.6645	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	49	0.00	0	G	NM_173076		215818580	215818580	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	silent	53	22.06	15	SNP	1.000	A
ACAP3	116983	genome.wustl.edu	37	1	1238556	1238556	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr1:1238556C>T	ENST00000354700.5	-	3	413	c.211G>A	c.(211-213)Gac>Aac	p.D71N	ACAP3_ENST00000353662.3_Missense_Mutation_p.D29N	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	71					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						ATGACGGTGTCGCCCTGGCAC	0.662																																						dbGAP											0													54.0	41.0	45.0					1																	1238556		2190	4283	6473	-	-	-	SO:0001583	missense	0			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.211G>A	1.37:g.1238556C>T	ENSP00000346733:p.Asp71Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.D29N	ENST00000354700.5	37	c.85	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105435	0.56291	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.06768	3.26;3.26	3.33	3.33	0.38152	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	M	0.73962	2.25	0.45718	D	0.998629	D;D;D	0.64830	0.994;0.981;0.986	P;P;P	0.62014	0.897;0.613;0.704	T	0.02505	-1.1149	10	0.36615	T	0.2	.	14.4299	0.67243	0.0:1.0:0.0:0.0	.	111;71;29	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	N	71;29	ENSP00000346733:D71N;ENSP00000321139:D29N	ENSP00000321139:D29N	D	-	1	0	ACAP3	1228419	0.999000	0.42202	0.254000	0.24359	0.729000	0.41735	4.335000	0.59298	2.177000	0.69029	0.484000	0.47621	GAC	ACAP3	-	NULL	ENSG00000131584		0.662	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	9	0.00	0	C	NM_030649		1238556	1238556	-1	no_errors	ENST00000353662	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.985	T
ALAD	210	genome.wustl.edu	37	9	116155798	116155798	+	Silent	SNP	T	T	C			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr9:116155798T>C	ENST00000409155.3	-	2	238	c.42A>G	c.(40-42)ccA>ccG	p.P14P	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Silent_p.P14P	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	14					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CCCGAAGTAGTGGGTGGAAGT	0.617																																						dbGAP											0													144.0	107.0	119.0					9																	116155798		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.42A>G	9.37:g.116155798T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.P14	ENST00000409155.3	37	c.42	CCDS6794.2	9																																																																																			ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth	ENSG00000148218		0.617	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3	70	0.00	0	T	NM_001003945		116155798	116155798	-1	no_errors	ENST00000409155	ensembl	human	known	69_37n	silent	129	16.67	26	SNP	0.003	C
CDH23	64072	genome.wustl.edu	37	10	73501658	73501658	+	Missense_Mutation	SNP	G	G	A	rs563582184		TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr10:73501658G>A	ENST00000224721.6	+	37	4845	c.4840G>A	c.(4840-4842)Gag>Aag	p.E1614K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1609	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGGAGGACGAGGGCACCCC	0.692													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18467	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													17.0	20.0	19.0					10																	73501658		2144	4239	6383	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4840G>A	10.37:g.73501658G>A	ENSP00000224721:p.Glu1614Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1612K	ENST00000224721.6	37	c.4834		10	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946692	0.92593	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.063203	0.64402	D	0.000007	T	0.41926	0.1180	N	0.02213	-0.635	0.80722	D	1	D;P	0.65815	0.995;0.948	P;B	0.59357	0.856;0.418	T	0.41179	-0.9523	9	0.06891	T	0.86	.	18.52	0.90948	0.0:0.0:1.0:0.0	.	429;1609	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1614;1609;1612;429	.	ENSP00000224721:E1614K	E	+	1	0	CDH23	73171664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.711000	0.98735	2.378000	0.81104	0.655000	0.94253	GAG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.692	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	15	0.00	0	G	NM_052836		73501658	73501658	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	A
CTCF	10664	genome.wustl.edu	37	16	67645412	67645412	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr16:67645412A>G	ENST00000264010.4	+	3	1121	c.677A>G	c.(676-678)tAc>tGc	p.Y226C	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	226					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGTCTGTCTACGATTTTGAG	0.413																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											0													107.0	108.0	107.0					16																	67645412		2197	4300	6497	-	-	-	SO:0001583	missense	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.677A>G	16.37:g.67645412A>G	ENSP00000264010:p.Tyr226Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y226C	ENST00000264010.4	37	c.677	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826649	0.71143	.	.	ENSG00000102974	ENST00000264010	T	0.09255	3.0	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000008	T	0.19967	0.0480	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.03493	-1.1031	10	0.48119	T	0.1	-2.6769	15.7759	0.78214	1.0:0.0:0.0:0.0	.	226	P49711	CTCF_HUMAN	C	226	ENSP00000264010:Y226C	ENSP00000264010:Y226C	Y	+	2	0	CTCF	66202913	1.000000	0.71417	0.953000	0.39169	0.975000	0.68041	8.908000	0.92640	2.308000	0.77769	0.533000	0.62120	TAC	CTCF	-	NULL	ENSG00000102974		0.413	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	73	0.00	0	A	NM_006565		67645412	67645412	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	1.000	G
FLNB	2317	genome.wustl.edu	37	3	58154202	58154202	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr3:58154202G>T	ENST00000295956.4	+	44	7399	c.7234G>T	c.(7234-7236)Gca>Tca	p.A2412S	FLNB_ENST00000348383.5_Missense_Mutation_p.A2371S|FLNB_ENST00000490882.1_Missense_Mutation_p.A2443S|FLNB_ENST00000493452.1_Missense_Mutation_p.A2219S|FLNB_ENST00000419752.2_Missense_Mutation_p.A2232S|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.A2388S|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000429972.2_Missense_Mutation_p.A2401S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2412	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACCACCCGAGCAGGTCCAGG	0.493																																						dbGAP											0													71.0	63.0	66.0					3																	58154202		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7234G>T	3.37:g.58154202G>T	ENSP00000295956:p.Ala2412Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A2412S	ENST00000295956.4	37	c.7234	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917405	0.92249	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	4.82	4.82	0.62117	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051688	0.85682	D	0.000000	D	0.94142	0.8121	M	0.84511	2.7	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;0.987;0.998;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.999	D	0.94977	0.8122	10	0.87932	D	0	.	18.1211	0.89572	0.0:0.0:1.0:0.0	.	2388;2443;2219;2232;2401;2412	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	S	2412;2443;2388;2401;2371;2219;2232	ENSP00000295956:A2412S;ENSP00000420213:A2443S;ENSP00000351339:A2388S;ENSP00000415599:A2401S;ENSP00000232447:A2371S;ENSP00000418510:A2219S;ENSP00000414532:A2232S	ENSP00000295956:A2412S	A	+	1	0	FLNB	58129242	1.000000	0.71417	0.957000	0.39632	0.906000	0.53458	9.657000	0.98554	2.507000	0.84556	0.563000	0.77884	GCA	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.493	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	76	0.00	0	G	NM_001457		58154202	58154202	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	missense	44	32.31	21	SNP	1.000	T
HTRA1	5654	genome.wustl.edu	37	10	124269648	124269648	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr10:124269648G>A	ENST00000368984.3	+	7	1285	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	386	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATTGGTATCCGAATGATGTCA	0.498																																						dbGAP											0													120.0	106.0	111.0					10																	124269648		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1157G>A	10.37:g.124269648G>A	ENSP00000357980:p.Arg386Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.R386Q	ENST00000368984.3	37	c.1157	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895934	0.91962	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.15256	2.44;2.44	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	N	0.26130	0.795	0.80722	D	1	P	0.49635	0.926	P	0.46659	0.523	T	0.01195	-1.1422	10	0.34782	T	0.22	-15.3818	19.1139	0.93330	0.0:0.0:1.0:0.0	.	386	Q92743	HTRA1_HUMAN	Q	386;353;127	ENSP00000357980:R386Q;ENSP00000412676:R127Q	ENSP00000357980:R386Q	R	+	2	0	HTRA1	124259638	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.889000	0.92470	2.508000	0.84585	0.561000	0.74099	CGA	HTRA1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000166033		0.498	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	55	0.00	0	G	NM_002775		124269648	124269648	+1	no_errors	ENST00000368984	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	1.000	A
IFT140	9742	genome.wustl.edu	37	16	1570681	1570681	+	Silent	SNP	C	C	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr16:1570681C>T	ENST00000426508.2	-	27	3945	c.3582G>A	c.(3580-3582)caG>caA	p.Q1194Q	IFT140_ENST00000361339.5_Silent_p.Q388Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1194					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGTCTGCTATCTGCTCCAGCA	0.637																																						dbGAP											0													34.0	29.0	31.0					16																	1570681		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3582G>A	16.37:g.1570681C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1194	ENST00000426508.2	37	c.3582	CCDS10439.1	16																																																																																			IFT140	-	superfamily_ARM-type_fold	ENSG00000187535		0.637	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	14	0.00	0	C	NM_014714		1570681	1570681	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	silent	11	54.17	13	SNP	1.000	T
KIF21B	23046	genome.wustl.edu	37	1	200969064	200969064	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr1:200969064C>T	ENST00000422435.2	-	12	2030	c.1714G>A	c.(1714-1716)Gca>Aca	p.A572T	KIF21B_ENST00000332129.2_Missense_Mutation_p.A572T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A572T|KIF21B_ENST00000360529.5_Missense_Mutation_p.A572T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	572					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAGTTTTGCCCTCTTTTTG	0.622																																						dbGAP											0													202.0	166.0	178.0					1																	200969064		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1714G>A	1.37:g.200969064C>T	ENSP00000411831:p.Ala572Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.A572T	ENST00000422435.2	37	c.1714	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	c	10.32	1.318746	0.23994	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71222	1.97;-0.55;1.97;-0.27	4.88	4.88	0.63580	.	0.137252	0.48286	D	0.000184	T	0.55353	0.1915	L	0.51422	1.61	0.27555	N	0.950368	B;B;B;P	0.35272	0.361;0.361;0.18;0.493	B;B;B;B	0.26864	0.034;0.054;0.031;0.074	T	0.47799	-0.9089	10	0.12766	T	0.61	.	8.2297	0.31590	0.27:0.5736:0.1563:0.0	.	572;572;572;572	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	T	572	ENSP00000328494:A572T;ENSP00000353724:A572T;ENSP00000433808:A572T;ENSP00000411831:A572T	ENSP00000328494:A572T	A	-	1	0	KIF21B	199235687	0.989000	0.36119	0.999000	0.59377	0.704000	0.40688	1.971000	0.40530	2.260000	0.74910	0.556000	0.70494	GCA	KIF21B	-	NULL	ENSG00000116852		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	114	0.00	0	C	XM_371332		200969064	200969064	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	189	14.09	31	SNP	0.841	T
LTV1	84946	genome.wustl.edu	37	6	144184640	144184640	+	Silent	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr6:144184640G>A	ENST00000367576.5	+	11	1538	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ZC2HC1B_ENST00000539295.1_5'Flank|ZC2HC1B_ENST00000237275.6_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	468						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ACTTGAAGAAGAATGTTGAGG	0.393																																						dbGAP											0													92.0	90.0	91.0					6																	144184640		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.1404G>A	6.37:g.144184640G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JX8	Silent	SNP	pfam_LTV	p.K468	ENST00000367576.5	37	c.1404	CCDS5201.1	6																																																																																			LTV1	-	NULL	ENSG00000135521		0.393	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	HGNC	protein_coding	OTTHUMT00000042532.1	57	0.00	0	G	NM_032860		144184640	144184640	+1	no_errors	ENST00000367576	ensembl	human	known	69_37n	silent	71	23.66	22	SNP	0.732	A
MAGEL2	54551	genome.wustl.edu	37	15	23889494	23889494	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr15:23889494G>C	ENST00000532292.1	-	1	1681	c.1587C>G	c.(1585-1587)atC>atG	p.I529M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	412					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAAAATTAAAGATCAGATCCT	0.448																																						dbGAP											0													60.0	57.0	58.0					15																	23889494		1883	4110	5993	-	-	-	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1587C>G	15.37:g.23889494G>C	ENSP00000433433:p.Ile529Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.I529M	ENST00000532292.1	37	c.1587		15	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874555	0.17395	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.57	2.6	0.31112	.	.	.	.	.	T	0.42653	0.1212	L	0.60957	1.885	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	5	.	.	.	.	5.6299	0.17504	0.2581:0.0:0.7419:0.0	.	.	.	.	C	561	.	.	S	-	2	0	MAGEL2	21440587	0.880000	0.30214	0.183000	0.23137	0.032000	0.12392	0.488000	0.22371	1.211000	0.43351	0.467000	0.42956	TCT	MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.448	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	37	0.00	0	G	NM_019066		23889494	23889494	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	0.138	C
MUC4	4585	genome.wustl.edu	37	3	195506258	195506258	+	Missense_Mutation	SNP	G	G	C	rs547058291	byFrequency	TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr3:195506258G>C	ENST00000463781.3	-	2	12652	c.12193C>G	c.(12193-12195)Ctt>Gtt	p.L4065V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L4065V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACATGAAGAGGGGTGGCG	0.582																																						dbGAP											0													31.0	17.0	22.0					3																	195506258		571	1292	1863	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12193C>G	3.37:g.195506258G>C	ENSP00000417498:p.Leu4065Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.L4065V	ENST00000463781.3	37	c.12193	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	0.424	-0.906834	0.02434	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.42900	1.24;0.96	.	.	.	.	.	.	.	.	T	0.19167	0.0460	N	0.19112	0.55	0.09310	N	1	B	0.28233	0.204	B	0.17979	0.02	T	0.14811	-1.0459	7	.	.	.	.	2.1699	0.03846	0.0:0.3304:0.3416:0.328	.	3937	E7ESK3	.	V	4065	ENSP00000417498:L4065V;ENSP00000420243:L4065V	.	L	-	1	0	MUC4	196991037	0.001000	0.12720	0.001000	0.08648	0.065000	0.16274	-0.428000	0.06991	-0.812000	0.04363	0.064000	0.15345	CTT	MUC4	-	NULL	ENSG00000145113		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	126	0.00	0	G	NM_018406		195506258	195506258	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	114	32.14	54	SNP	0.000	C
PAPPA	5069	genome.wustl.edu	37	9	119106938	119106938	+	Missense_Mutation	SNP	G	G	A	rs142176678		TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr9:119106938G>A	ENST00000328252.3	+	14	4097	c.3728G>A	c.(3727-3729)cGg>cAg	p.R1243Q	PAPPA_ENST00000534838.1_Missense_Mutation_p.R281Q	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1243	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGCTGCCGGACAGGCTAC	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18989	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													90.0	76.0	80.0					9																	119106938		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3728G>A	9.37:g.119106938G>A	ENSP00000330658:p.Arg1243Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R1243Q	ENST00000328252.3	37	c.3728	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	2.689	-0.273600	0.05679	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.76316	-1.01;-1.01	5.36	-3.52	0.04682	Complement control module (2);Sushi/SCR/CCP (2);	0.912829	0.09538	N	0.788681	T	0.52661	0.1748	N	0.08118	0	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.46345	-0.9198	10	0.05959	T	0.93	-3.9131	13.4567	0.61204	0.7421:0.0:0.2579:0.0	.	281;1243	F5GZ19;Q13219	.;PAPP1_HUMAN	Q	1243;281	ENSP00000330658:R1243Q;ENSP00000441461:R281Q	ENSP00000330658:R1243Q	R	+	2	0	PAPPA	118146759	0.735000	0.28153	0.371000	0.25978	0.611000	0.37282	0.423000	0.21313	-0.483000	0.06772	-0.768000	0.03414	CGG	PAPPA	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000182752		0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	36	0.00	0	G	NM_002581		119106938	119106938	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	0.158	A
PEX13	5194	genome.wustl.edu	37	2	61258802	61258802	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr2:61258802C>G	ENST00000295030.5	+	2	379	c.341C>G	c.(340-342)cCa>cGa	p.P114R	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	114					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GATGATCTTCCACCCAGTAGA	0.438																																						dbGAP											0													132.0	128.0	129.0					2																	61258802		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.341C>G	2.37:g.61258802C>G	ENSP00000295030:p.Pro114Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCS1	Missense_Mutation	SNP	pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.P114R	ENST00000295030.5	37	c.341	CCDS1866.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002556	0.74932	.	.	ENSG00000162928	ENST00000295030	T	0.77877	-1.13	5.85	5.85	0.93711	Peroxin 13, N-terminal (1);	0.097704	0.64402	D	0.000001	D	0.86752	0.6008	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.83015	-0.0170	10	0.27082	T	0.32	-11.9789	20.1649	0.98147	0.0:1.0:0.0:0.0	.	114	Q92968	PEX13_HUMAN	R	114	ENSP00000295030:P114R	ENSP00000295030:P114R	P	+	2	0	PEX13	61112306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.660000	0.61511	2.753000	0.94483	0.655000	0.94253	CCA	PEX13	-	pfam_Peroxin-13_N	ENSG00000162928		0.438	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX13	HGNC	protein_coding	OTTHUMT00000251581.3	108	0.00	0	C	NM_002618		61258802	61258802	+1	no_errors	ENST00000295030	ensembl	human	known	69_37n	missense	81	25.23	28	SNP	1.000	G
PRR5L	79899	genome.wustl.edu	37	11	36453429	36453429	+	Silent	SNP	C	C	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr11:36453429C>T	ENST00000378867.3	+	6	676	c.321C>T	c.(319-321)ttC>ttT	p.F107F	PRR5L_ENST00000530639.1_Silent_p.F107F|PRR5L_ENST00000527487.1_Silent_p.F107F|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.F81F	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	107					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AAGGACTGTTCTTTGTGGAGG	0.478																																						dbGAP											0													181.0	177.0	178.0					11																	36453429		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.321C>T	11.37:g.36453429C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	pfam_HbrB	p.F107	ENST00000378867.3	37	c.321	CCDS31463.1	11																																																																																			PRR5L	-	pfam_HbrB	ENSG00000135362		0.478	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	164	0.00	0	C	NM_024841		36453429	36453429	+1	no_errors	ENST00000378867	ensembl	human	known	69_37n	silent	160	21.18	43	SNP	0.999	T
RPS6KA1	6195	genome.wustl.edu	37	1	26882081	26882081	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr1:26882081G>A	ENST00000374168.2	+	11	1035	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R278Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R202Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R303Q|RPS6KA1_ENST00000488985.1_3'UTR|MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R202Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R283Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	294	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCCTCTTGCGGGCCCTGTTC	0.652																																						dbGAP											0													25.0	24.0	24.0					1																	26882081		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.881G>A	1.37:g.26882081G>A	ENSP00000363283:p.Arg294Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R303Q	ENST00000374168.2	37	c.908	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928748	0.92389	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	6.08	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	N	0.12182	0.205	0.80722	D	1	D;P;B	0.71674	0.998;0.942;0.119	D;B;B	0.63488	0.915;0.22;0.02	T	0.59413	-0.7459	10	0.87932	D	0	.	15.2606	0.73617	0.0669:0.0:0.9331:0.0	.	278;303;294	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	Q	294;283;202;202;278;14;303	ENSP00000363283:R294Q;ENSP00000363281:R283Q;ENSP00000431651:R202Q;ENSP00000363277:R202Q;ENSP00000432281:R278Q;ENSP00000435412:R303Q	ENSP00000363277:R202Q	R	+	2	0	RPS6KA1	26754668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.015000	0.88690	1.588000	0.49971	0.655000	0.94253	CGG	RPS6KA1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000117676		0.652	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	42	0.00	0	G	NM_002953		26882081	26882081	+1	no_errors	ENST00000531382	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	A
RGSL1	353299	genome.wustl.edu	37	1	182517845	182517845	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr1:182517845C>A	ENST00000294854.8	+	17	2839	c.2819C>A	c.(2818-2820)cCt>cAt	p.P940H	RGSL1_ENST00000542961.1_Intron	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	940					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						GTGAATGTCCCTGAGTTCCAG	0.582																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	dbGAP											0													164.0	145.0	150.0					1																	182517845		692	1591	2283	-	-	-	SO:0001583	missense	0			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.2819C>A	1.37:g.182517845C>A	ENSP00000457748:p.Pro940His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam	p.P940H	ENST00000294854.8	37	c.2819	CCDS58049.1	1																																																																																			RGSL1	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000121446		0.582	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	82	0.00	0	C	NM_181572		182517845	182517845	+1	no_errors	ENST00000294854	ensembl	human	known	69_37n	missense	125	14.97	22	SNP	0.970	A
SCAMP5	192683	genome.wustl.edu	37	15	75305052	75305052	+	Silent	SNP	C	C	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr15:75305052C>T	ENST00000361900.6	+	4	249	c.42C>T	c.(40-42)ttC>ttT	p.F14F	SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_5'UTR|SCAMP5_ENST00000562212.1_Silent_p.F14F|SCAMP5_ENST00000425597.3_Silent_p.F14F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	14					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGCCCAAATTCATCCCGCTGA	0.507																																						dbGAP											0													97.0	102.0	100.0					15																	75305052		2052	4205	6257	-	-	-	SO:0001819	synonymous_variant	0			AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.42C>T	15.37:g.75305052C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	pfam_SCAMP	p.F14	ENST00000361900.6	37	c.42	CCDS45306.1	15																																																																																			SCAMP5	-	pfam_SCAMP	ENSG00000198794		0.507	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP5	HGNC	protein_coding	OTTHUMT00000420015.2	81	0.00	0	C	NM_138967		75305052	75305052	+1	no_errors	ENST00000562212	ensembl	human	known	69_37n	silent	74	20.43	19	SNP	1.000	T
SH3BP4	23677	genome.wustl.edu	37	2	235950440	235950440	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr2:235950440G>A	ENST00000409212.1	+	4	1534	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E343K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E343K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	343					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCACGTGCCCGAGGGCCACGT	0.642																																						dbGAP											0													30.0	34.0	33.0					2																	235950440		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1027G>A	2.37:g.235950440G>A	ENSP00000386862:p.Glu343Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E343K	ENST00000409212.1	37	c.1027	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710726	0.48517	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.42131	0.98;0.98;0.98	5.8	3.9	0.45041	ZU5 (1);	0.143876	0.64402	D	0.000009	T	0.38348	0.1037	L	0.59436	1.845	0.80722	D	1	P;P	0.51240	0.943;0.943	B;B	0.41691	0.364;0.364	T	0.34825	-0.9813	10	0.52906	T	0.07	-5.1197	10.3038	0.43667	0.0743:0.1354:0.7903:0.0	.	343;343	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	343	ENSP00000375867:E343K;ENSP00000386862:E343K;ENSP00000340237:E343K	ENSP00000340237:E343K	E	+	1	0	SH3BP4	235615179	1.000000	0.71417	0.984000	0.44739	0.179000	0.23085	7.628000	0.83189	1.451000	0.47736	0.655000	0.94253	GAG	SH3BP4	-	pfam_ZU5	ENSG00000130147		0.642	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	8	0.00	0	G			235950440	235950440	+1	no_errors	ENST00000344528	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	A
TACC2	10579	genome.wustl.edu	37	10	123845984	123845984	+	Silent	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr10:123845984G>A	ENST00000369005.1	+	4	4309	c.3969G>A	c.(3967-3969)gtG>gtA	p.V1323V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.V1323V|TACC2_ENST00000453444.2_Silent_p.V1323V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1323V|TACC2_ENST00000334433.3_Silent_p.V1323V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1323					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGACCAGTGGACTCCATGC	0.617																																						dbGAP											0													63.0	54.0	57.0					10																	123845984		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3969G>A	10.37:g.123845984G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.V1323	ENST00000369005.1	37	c.3969	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.617	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	40	0.00	0	G			123845984	123845984	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.000	A
TARBP1	6894	genome.wustl.edu	37	1	234566023	234566023	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr1:234566023G>C	ENST00000040877.1	-	15	2418	c.2419C>G	c.(2419-2421)Cag>Gag	p.Q807E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	807					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTACTCTCTGAATCTGACTT	0.478																																						dbGAP											0													68.0	64.0	66.0					1																	234566023		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2419C>G	1.37:g.234566023G>C	ENSP00000040877:p.Gln807Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.Q807E	ENST00000040877.1	37	c.2419	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499144	0.26861	.	.	ENSG00000059588	ENST00000040877	T	0.06933	3.24	5.26	5.26	0.73747	.	0.201765	0.45606	D	0.000356	T	0.10637	0.0260	M	0.64997	1.995	0.35340	D	0.786379	P	0.39216	0.664	B	0.33454	0.164	T	0.15809	-1.0424	10	0.39692	T	0.17	-5.475	14.8097	0.69985	0.0:0.0:0.8552:0.1448	.	807	Q13395	TARB1_HUMAN	E	807	ENSP00000040877:Q807E	ENSP00000040877:Q807E	Q	-	1	0	TARBP1	232632646	1.000000	0.71417	0.930000	0.37139	0.865000	0.49528	4.723000	0.61965	2.611000	0.88343	0.655000	0.94253	CAG	TARBP1	-	NULL	ENSG00000059588		0.478	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	31	0.00	0	G	NM_005646		234566023	234566023	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	missense	26	36.36	16	SNP	1.000	C
TRIP11	9321	genome.wustl.edu	37	14	92470730	92470730	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr14:92470730C>T	ENST00000267622.4	-	11	3963	c.3590G>A	c.(3589-3591)gGa>gAa	p.G1197E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1197					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATTAACACCTCCAGCCTCATT	0.398			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													85.0	80.0	82.0					14																	92470730		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3590G>A	14.37:g.92470730C>T	ENSP00000267622:p.Gly1197Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.W912*	ENST00000267622.4	37	c.2736	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.62|14.62	2.590102|2.590102	0.46214|0.46214	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.24538|.	1.85|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59878|.	0.2226|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.993|.	T|.	0.54523|.	-0.8281|.	10|.	0.06625|.	T|.	0.88|.	.|.	19.0334|19.0334	0.92967|0.92967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	933;1197|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	E|X	1197;933|912	ENSP00000267622:G1197E|.	ENSP00000267622:G1197E|.	G|W	-|-	2|3	0|0	TRIP11|TRIP11	91540483|91540483	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.142000|0.142000	0.21351|0.21351	5.843000|5.843000	0.69424|0.69424	2.488000|2.488000	0.83962|0.83962	0.455000|0.455000	0.32223|0.32223	GGA|TGG	TRIP11	-	NULL	ENSG00000100815		0.398	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	49	0.00	0	C			92470730	92470730	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000554357	ensembl	human	novel	69_37n	nonsense	50	19.35	12	SNP	1.000	T
ULBP2	80328	genome.wustl.edu	37	6	150267715	150267715	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr6:150267715C>G	ENST00000367351.3	+	3	630	c.557C>G	c.(556-558)tCa>tGa	p.S186*		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	186	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)	p.S186*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CATTACTTCTCAATGGGAGAC	0.483																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											246.0	222.0	230.0					6																	150267715		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.557C>G	6.37:g.150267715C>G	ENSP00000356320:p.Ser186*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUN4	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.S186*	ENST00000367351.3	37	c.557	CCDS5222.1	6	.	.	.	.	.	.	.	.	.	.	-	11.74	1.728591	0.30593	.	.	ENSG00000131015	ENST00000367351	.	.	.	1.62	0.715	0.18186	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9773	0.09479	0.0:0.7666:0.0:0.2334	.	.	.	.	X	186	.	ENSP00000356320:S186X	S	+	2	0	ULBP2	150309408	0.012000	0.17670	0.001000	0.08648	0.038000	0.13279	2.429000	0.44758	0.264000	0.21851	0.184000	0.17185	TCA	ULBP2	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000131015		0.483	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP2	HGNC	protein_coding	OTTHUMT00000042669.1	241	0.00	0	C			150267715	150267715	+1	no_errors	ENST00000367351	ensembl	human	known	69_37n	nonsense	243	18.18	54	SNP	0.001	G
WDR44	54521	genome.wustl.edu	37	X	117578415	117578415	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chrX:117578415G>A	ENST00000254029.3	+	19	3000	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	WDR44_ENST00000371825.3_Missense_Mutation_p.E861K|WDR44_ENST00000371822.5_Missense_Mutation_p.E780K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	869						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAAGGGAACGAGAAAAGTGA	0.393													G|||	4	0.0010596	0.0	0.0	3775	,	,		13106	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													148.0	132.0	137.0					X																	117578415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2605G>A	X.37:g.117578415G>A	ENSP00000254029:p.Glu869Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E869K	ENST00000254029.3	37	c.2605	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.116|4.116	0.019794|0.019794	0.08006|0.08006	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	T;T;T|.	0.73047|.	-0.71;-0.13;-0.0|.	5.29|5.29	1.03|1.03	0.20045|0.20045	.|.	1.077360|.	0.06910|.	N|.	0.807485|.	T|T	0.35998|0.35998	0.0951|0.0951	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.26708|.	0.049;0.157;0.065;0.001|.	B;B;B;B|.	0.18263|.	0.021;0.014;0.02;0.001|.	T|T	0.26710|0.26710	-1.0095|-1.0095	10|5	0.07030|.	T|.	0.85|.	0.1378|0.1378	8.8434|8.8434	0.35155|0.35155	0.5192:0.0:0.4808:0.0|0.5192:0.0:0.4808:0.0	.|.	780;869;861;869|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	K|Q	780;869;861;255|768	ENSP00000360887:E780K;ENSP00000254029:E869K;ENSP00000360890:E861K|.	ENSP00000254029:E869K|.	E|R	+|+	1|2	0|0	WDR44|WDR44	117462443|117462443	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	0.300000|0.300000	0.19156|0.19156	-0.161000|-0.161000	0.10983|0.10983	-0.397000|-0.397000	0.06425|0.06425	GAG|CGA	WDR44	-	NULL	ENSG00000131725		0.393	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	130	0.00	0	G	NM_019045		117578415	117578415	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	100	22.31	29	SNP	0.000	A
YY1AP1	55249	genome.wustl.edu	37	1	155658085	155658085	+	Intron	SNP	T	T	C	rs2666826	byFrequency	TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr1:155658085T>C	ENST00000295566.4	-	2	71				YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000368330.2_Intron|DAP3_ENST00000421487.2_5'Flank|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_5'UTR|YY1AP1_ENST00000368339.5_Silent_p.E57E|DAP3_ENST00000368336.5_5'Flank|YY1AP1_ENST00000476093.1_Intron|DAP3_ENST00000465375.1_5'Flank|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000347088.5_Intron|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000535183.1_5'Flank|YY1AP1_ENST00000368340.5_Silent_p.E57E|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000355499.4_Intron|DAP3_ENST00000343043.3_5'Flank|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000438245.2_5'UTR|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000405763.3_Silent_p.E57E	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1						regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTGGGATCGTTTCCCCTCGCA	0.637													.|||	2662	0.53155	0.8041	0.3631	5008	,	,		15905	0.6855		0.2972	False		,,,				2504	0.365					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.48-93A>G	1.37:g.155658085T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	NULL	p.E57	ENST00000295566.4	37	c.171	CCDS1115.1	1																																																																																			YY1AP1	-	NULL	ENSG00000163374		0.637	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	8	0.00	0	T	NM_139118		155658085	155658085	-1	no_errors	ENST00000368339	ensembl	human	known	69_37n	silent	4	77.78	14	SNP	1.000	C
ZMYM2	7750	genome.wustl.edu	37	13	20625607	20625608	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EW-A1IY-01A-11D-A188-09	TCGA-EW-A1IY-10A-01D-A13O-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	01d3fddf-b447-4925-a5cb-c5fd70c97278	c7f01a5c-5823-4fe9-9231-ea937c354172	g.chr13:20625607_20625608delCT	ENST00000382874.2	+	14	2517_2518	c.2327_2328delCT	c.(2326-2328)actfs	p.T776fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.T776fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.T776fs|ZMYM2_ENST00000382883.3_Frame_Shift_Del_p.T258fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCTCAAGGAACTCTTAAAGAGC	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2327_2328delCT	13.37:g.20625609_20625610delCT	ENSP00000372327:p.Thr776fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.L777fs	ENST00000382874.2	37	c.2327_2328	CCDS45016.1	13																																																																																			ZMYM2	-	pfam_Znf_MYM,smart_TRASH	ENSG00000121741		0.371	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	89	0.00	0	CT	NM_003453		20625607	20625608	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	frame_shift_del	64	21.95	18	DEL	0.998:0.995	-
