#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_ORegAnno_bin	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
ASTN1	460	genome.wustl.edu	37	1	176913118	176913118	+	Silent	SNP	C	C	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr1:176913118C>A	ENST00000367654.3	-	14	2521	c.2310G>T	c.(2308-2310)ctG>ctT	p.L770L	ASTN1_ENST00000424564.2_Silent_p.L762L|ASTN1_ENST00000361833.2_Silent_p.L762L|ASTN1_ENST00000367657.3_Silent_p.L762L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	770					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACCATCTGGCAGTTGCTGGT	0.517																																						dbGAP											0													120.0	109.0	113.0					1																	176913118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2310G>T	1.37:g.176913118C>A			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.L770	ENST00000367654.3	37	c.2310		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.517	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		88	0.00	0	C	NM_004319		176913118	176913118	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	silent	86	33.08	43	SNP	1.000	A
BRCC3	79184	genome.wustl.edu	37	X	154317544	154317544	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chrX:154317544G>A	ENST00000369462.1	+	6	435	c.410G>A	c.(409-411)cGc>cAc	p.R137H	BRCC3_ENST00000340647.4_Missense_Mutation_p.R138H|BRCC3_ENST00000399042.1_Missense_Mutation_p.R137H|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.R137H|BRCC3_ENST00000330045.7_Missense_Mutation_p.R137H	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	137	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGATGTTCGCACACAAGCC	0.323																																						dbGAP											0													79.0	62.0	68.0					X																	154317544		1876	4096	5972	-	-	-	SO:0001583	missense	0			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.410G>A	X.37:g.154317544G>A	ENSP00000358474:p.Arg137His		A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R137H	ENST00000369462.1	37	c.410	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934266	0.73442	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.871;0.999	T	0.67381	-0.5685	10	0.49607	T	0.09	-9.7049	14.5867	0.68331	0.0:0.0:1.0:0.0	.	137;137	P46736-2;P46736	.;BRCC3_HUMAN	H	138;137;137;137;113;137;137	ENSP00000344103:R138H;ENSP00000328641:R137H;ENSP00000358471:R137H;ENSP00000358474:R137H;ENSP00000413170:R113H;ENSP00000381998:R137H	ENSP00000328641:R137H	R	+	2	0	BRCC3	153970738	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	7.988000	0.88194	2.114000	0.64651	0.292000	0.19580	CGC	BRCC3	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	ENSG00000185515		0.323	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	165	0.00	0	G	NM_024332		154317544	154317544	+1	no_errors	ENST00000399042	ensembl	human	known	69_37n	missense	164	15.90	31	SNP	1.000	A
CAPN14	440854	genome.wustl.edu	37	2	31412212	31412212	+	Missense_Mutation	SNP	C	C	T	rs201587590		TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr2:31412212C>T	ENST00000403897.3	-	13	1561	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	CAPN14_ENST00000444918.2_Missense_Mutation_p.V474M	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	474	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						ATGCAGGGCACGATGAGGTAC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		21151	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													122.0	111.0	114.0					2																	31412212		692	1591	2283	-	-	-	SO:0001583	missense	0			AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.1420G>A	2.37:g.31412212C>T	ENSP00000385247:p.Val474Met		B3KRU9	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.V474M	ENST00000403897.3	37	c.1420	CCDS46254.1	2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919600	0.33908	.	.	ENSG00000214711	ENST00000444918;ENST00000403897	D;D	0.92249	-3.0;-3.0	3.58	1.73	0.24493	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.299233	0.25447	U	0.030614	D	0.95056	0.8399	M	0.87547	2.89	0.35913	D	0.831249	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.966	D	0.94379	0.7603	10	0.87932	D	0	.	6.2225	0.20689	0.0:0.7496:0.0:0.2504	.	474;298	A8MX76;A8MX76-2	CAN14_HUMAN;.	M	474	ENSP00000398670:V474M;ENSP00000385247:V474M	ENSP00000385247:V474M	V	-	1	0	CAPN14	31265716	0.213000	0.23551	0.628000	0.29241	0.272000	0.26649	0.551000	0.23361	0.509000	0.28195	0.561000	0.74099	GTG	CAPN14	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease	ENSG00000214711		0.517	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1	95	0.00	0	C	NM_001145122		31412212	31412212	-1	no_errors	ENST00000444918	ensembl	human	known	69_37n	missense	94	38.16	58	SNP	0.995	T
CCDC91	55297	genome.wustl.edu	37	12	28459679	28459679	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr12:28459679A>C	ENST00000545336.1	+	8	691	c.272A>C	c.(271-273)cAg>cCg	p.Q91P	CCDC91_ENST00000306172.5_Missense_Mutation_p.Q61P|CCDC91_ENST00000381256.1_Missense_Mutation_p.Q91P|CCDC91_ENST00000539107.1_Missense_Mutation_p.Q91P|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.Q91P			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	91					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTAGATTCAGCAATCAACA	0.343																																						dbGAP											0													63.0	66.0	65.0					12																	28459679		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.272A>C	12.37:g.28459679A>C	ENSP00000438040:p.Gln91Pro		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	NULL	p.Q91P	ENST00000545336.1	37	c.272	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011872	0.54468	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.34667	1.35;1.37;1.37;1.37;1.37;1.35;1.35	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000017	T	0.43055	0.1230	N	0.24115	0.695	0.33364	D	0.572701	D;D	0.64830	0.994;0.994	D;D	0.75484	0.986;0.98	T	0.52793	-0.8528	10	0.33940	T	0.23	-10.9394	11.5003	0.50433	1.0:0.0:0.0:0.0	.	91;61	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	P	91;91;91;91;91;91;91;61	ENSP00000440513:Q91P;ENSP00000445660:Q91P;ENSP00000438040:Q91P;ENSP00000442544:Q91P;ENSP00000370658:Q91P;ENSP00000370655:Q91P;ENSP00000305075:Q61P	ENSP00000305075:Q61P	Q	+	2	0	CCDC91	28350946	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.842000	0.48230	2.205000	0.71048	0.533000	0.62120	CAG	CCDC91	-	NULL	ENSG00000123106		0.343	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	98	0.00	0	A	NM_018318		28459679	28459679	+1	no_errors	ENST00000381259	ensembl	human	known	69_37n	missense	95	18.80	22	SNP	1.000	C
CFP	5199	genome.wustl.edu	37	X	47489181	47489181	+	Silent	SNP	G	G	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chrX:47489181G>C	ENST00000396992.3	-	1	183	c.63C>G	c.(61-63)acC>acG	p.T21T	CFP_ENST00000247153.3_Silent_p.T21T|CFP_ENST00000480317.1_5'UTR|CFP_ENST00000377005.2_Silent_p.T21T	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	21					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TGGCTGGCAGGGTGAGCAGCA	0.682																																						dbGAP											0													12.0	13.0	13.0					X																	47489181		2088	4034	6122	-	-	-	SO:0001819	synonymous_variant	0			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.63C>G	X.37:g.47489181G>C			O15134|O15135|O15136|O75826	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T21	ENST00000396992.3	37	c.63	CCDS14282.1	X																																																																																			CFP	-	NULL	ENSG00000126759		0.682	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	17	0.00	0	G	NM_002621		47489181	47489181	-1	no_errors	ENST00000247153	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	0.162	C
CRKL	1399	genome.wustl.edu	37	22	21272296	21272296	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr22:21272296A>G	ENST00000354336.3	+	1	583	c.74A>G	c.(73-75)cAg>cGg	p.Q25R		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	25	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CAGGAGGCGCAGACCCGGCTC	0.677																																					Pancreas(85;3 1441 23889 42519 42763)	dbGAP											0													42.0	43.0	43.0					22																	21272296		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.74A>G	22.37:g.21272296A>G	ENSP00000346300:p.Gln25Arg		A8KA44|D3DX35	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.Q25R	ENST00000354336.3	37	c.74	CCDS13785.1	22	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051763	0.75960	.	.	ENSG00000099942	ENST00000354336	T	0.26067	1.76	5.27	5.27	0.74061	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	N	0.25485	0.75	0.80722	D	1	B	0.26081	0.141	B	0.38194	0.267	T	0.11616	-1.0580	10	0.56958	D	0.05	.	13.4297	0.61049	1.0:0.0:0.0:0.0	.	25	P46109	CRKL_HUMAN	R	25	ENSP00000346300:Q25R	ENSP00000346300:Q25R	Q	+	2	0	CRKL	19602296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.445000	0.66594	2.122000	0.65172	0.528000	0.53228	CAG	CRKL	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000099942		0.677	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRKL	HGNC	protein_coding	OTTHUMT00000320158.1	23	0.00	0	A	NM_005207		21272296	21272296	+1	no_errors	ENST00000354336	ensembl	human	known	69_37n	missense	8	61.90	13	SNP	1.000	G
DBN1	1627	genome.wustl.edu	37	5	176885058	176885058	+	Splice_Site	SNP	C	C	G			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr5:176885058C>G	ENST00000309007.5	-	12	1996		c.e12+1		DBN1_ENST00000292385.5_Splice_Site|DBN1_ENST00000393563.4_Splice_Site|DBN1_ENST00000512501.1_Missense_Mutation_p.V325L|DBN1_ENST00000393565.1_Splice_Site	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1						actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCCGCACCTGGGTCCCC	0.657																																						dbGAP											0													47.0	53.0	51.0					5																	176885058		2173	4227	6400	-	-	-	SO:0001630	splice_region_variant	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1776+1G>C	5.37:g.176885058C>G			A8MV58|B2RBG0|Q9UFZ5	Splice_Site	SNP	-	e12+1	ENST00000309007.5	37	c.1782+1	CCDS4420.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.439039|2.439039	0.43326|0.43326	.|.	.|.	ENSG00000113758|ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000393563|ENST00000512501	.|T	.|0.29917	.|1.55	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51160	.|0.1658	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55636	.|-0.8110	.|6	.|0.72032	.|D	.|0.01	.|.	16.6334|16.6334	0.85040|0.85040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|325	.|ENSP00000423208:V325L	.|ENSP00000423208:V325L	.|V	-|-	.|1	.|0	DBN1|DBN1	176817664|176817664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	2.308000|2.308000	0.43690|0.43690	2.530000|2.530000	0.85305|0.85305	0.462000|0.462000	0.41574|0.41574	.|GTG	DBN1	-	-	ENSG00000113758		0.657	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	16	0.00	0	C	NM_080881	Intron	176885058	176885058	-1	no_errors	ENST00000292385	ensembl	human	known	69_37n	splice_site	3	70.00	7	SNP	1.000	G
DCUN1D2	55208	genome.wustl.edu	37	13	114128499	114128499	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr13:114128499A>G	ENST00000478244.1	-	4	742	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.F154L|DCUN1D2_ENST00000332592.3_Missense_Mutation_p.F21L|DCUN1D2-AS_ENST00000414992.1_RNA|DCUN1D2-AS_ENST00000453584.1_RNA	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	154	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAATCTTTAAACTTGGCTGTG	0.443																																						dbGAP											0													172.0	165.0	167.0					13																	114128499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.460T>C	13.37:g.114128499A>G	ENSP00000417706:p.Phe154Leu		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	pfam_PONY_dom,superfamily_UBA-like	p.F154L	ENST00000478244.1	37	c.460	CCDS32013.1	13	.	.	.	.	.	.	.	.	.	.	A	33	5.206422	0.95033	.	.	ENSG00000150401	ENST00000332592;ENST00000478244;ENST00000375399	T	0.52295	0.67	5.03	5.03	0.67393	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.93150	3.385	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.83111	-0.0123	10	0.87932	D	0	.	14.7635	0.69621	1.0:0.0:0.0:0.0	.	154	Q6PH85	DCNL2_HUMAN	L	21;154;154	ENSP00000417706:F154L	ENSP00000330629:F21L	F	-	1	0	DCUN1D2	113176500	1.000000	0.71417	0.856000	0.33681	0.934000	0.57294	6.694000	0.74587	1.885000	0.54596	0.459000	0.35465	TTT	DCUN1D2	-	pfam_PONY_dom	ENSG00000150401		0.443	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D2	HGNC	protein_coding	OTTHUMT00000045938.4	125	0.79	1	A	NM_018185		114128499	114128499	-1	no_errors	ENST00000478244	ensembl	human	known	69_37n	missense	144	21.74	40	SNP	1.000	G
DUSP27	92235	genome.wustl.edu	37	1	167095568	167095568	+	Silent	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr1:167095568C>T	ENST00000361200.2	+	6	1366	c.1200C>T	c.(1198-1200)aaC>aaT	p.N400N	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.N400N|DUSP27_ENST00000271385.5_Silent_p.N400N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	400					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGCCGAAACGAGAGGTACC	0.672																																						dbGAP											0													45.0	32.0	36.0					1																	167095568		2180	4257	6437	-	-	-	SO:0001819	synonymous_variant	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1200C>T	1.37:g.167095568C>T			A0AUM4|Q9C074	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.N400	ENST00000361200.2	37	c.1200	CCDS30932.1	1																																																																																			DUSP27	-	NULL	ENSG00000198842		0.672	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	34	0.00	0	C	NM_001080426		167095568	167095568	+1	no_errors	ENST00000271385	ensembl	human	known	69_37n	silent	33	37.74	20	SNP	0.988	T
DNAH14	127602	genome.wustl.edu	37	1	225568025	225568025	+	Splice_Site	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr1:225568025G>A	ENST00000445597.2	+	55	9550		c.e55+1		DNAH14_ENST00000439375.2_Splice_Site|DNAH14_ENST00000430092.1_Splice_Site			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AATCTCAAAGGTGAGCATGGG	0.428																																						dbGAP											0													130.0	125.0	126.0					1																	225568025		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.9550+1G>A	1.37:g.225568025G>A			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Splice_Site	SNP	-	e77+1	ENST00000445597.2	37	c.12574+1		1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866430	0.51588	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1753	0.81845	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH14	223634648	1.000000	0.71417	0.525000	0.27900	0.482000	0.33219	5.493000	0.66899	2.405000	0.81733	0.603000	0.83216	.	DNAH14	-	-	ENSG00000185842		0.428	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	109	0.00	0	G	XM_059166	Intron	225568025	225568025	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	splice_site	162	16.06	31	SNP	1.000	A
ELP2	55250	genome.wustl.edu	37	18	33721133	33721133	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr18:33721133G>C	ENST00000358232.6	+	6	620	c.557G>C	c.(556-558)aGa>aCa	p.R186T	ELP2_ENST00000351393.6_Missense_Mutation_p.R160T|ELP2_ENST00000542824.1_Missense_Mutation_p.R160T|ELP2_ENST00000350494.6_Missense_Mutation_p.R225T|ELP2_ENST00000442325.2_Missense_Mutation_p.R251T|ELP2_ENST00000423854.2_Intron	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	186					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GATGATTGCAGAATTCACATA	0.343																																						dbGAP											0													128.0	122.0	124.0					18																	33721133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.557G>C	18.37:g.33721133G>C	ENSP00000350967:p.Arg186Thr		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R186T	ENST00000358232.6	37	c.557	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	G	5.233	0.228418	0.09916	.	.	ENSG00000134759	ENST00000543127;ENST00000358232;ENST00000351393;ENST00000442325;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.63417	-0.04;2.43;0.59;1.07;2.43;-0.02	5.45	-1.52	0.08637	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.335300	0.35970	N	0.002863	T	0.43055	0.1230	L	0.33339	1.005	0.41327	D	0.987219	P;B;B;B;B	0.34800	0.469;0.177;0.21;0.013;0.134	B;B;B;B;B	0.38985	0.287;0.103;0.135;0.037;0.043	T	0.43637	-0.9379	10	0.02654	T	1	-1.7271	9.6024	0.39612	0.5546:0.0:0.4454:0.0	.	225;251;160;160;186	B4DTG0;E7EP23;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;ELP2_HUMAN	T	37;186;160;251;225;160	ENSP00000440426:R37T;ENSP00000350967:R186T;ENSP00000257191:R160T;ENSP00000414851:R251T;ENSP00000316051:R225T;ENSP00000443800:R160T	ENSP00000316051:R225T	R	+	2	0	ELP2	31975131	0.994000	0.37717	0.992000	0.48379	0.890000	0.51754	0.209000	0.17435	-0.209000	0.10156	0.644000	0.83932	AGA	ELP2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.343	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	191	0.00	0	G	NM_018255		33721133	33721133	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	missense	118	23.38	36	SNP	0.992	C
GGT3P	2679	genome.wustl.edu	37	22	18778675	18778675	+	RNA	SNP	C	C	T	rs199910598	byFrequency	TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr22:18778675C>T	ENST00000412448.1	-	0	730							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGACAGAGGCCGACAATGACC	0.627																																						dbGAP											0																																										-	-	-			0					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778675C>T				RNA	SNP	-	NULL	ENST00000412448.1	37	NULL		22																																																																																			GGT3P	-	-	ENSG00000197421		0.627	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	HGNC	pseudogene	OTTHUMT00000341281.1	26	0.00	0	C	NR_003267		18778675	18778675	-1	no_errors	ENST00000412448	ensembl	human	known	69_37n	rna	53	22.06	15	SNP	0.913	T
HIST1H3C	8352	genome.wustl.edu	37	6	26045726	26045726	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr6:26045726G>C	ENST00000540144.1	+	1	88	c.88G>C	c.(88-90)Gct>Cct	p.A30P	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	30					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CCGTAAGAGCGCTCCGGCCAC	0.607																																						dbGAP											0													39.0	42.0	41.0					6																	26045726		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.88G>C	6.37:g.26045726G>C	ENSP00000439493:p.Ala30Pro		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.A30P	ENST00000540144.1	37	c.88	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623332	0.46840	.	.	ENSG00000196532	ENST00000540144	T	0.46063	0.88	4.67	4.67	0.58626	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.47441	D	0.999422	.	.	.	.	.	.	T	0.60885	-0.7174	6	0.87932	D	0	.	17.4292	0.87534	0.0:0.0:1.0:0.0	.	.	.	.	P	30	ENSP00000439493:A30P	ENSP00000439493:A30P	A	+	1	0	HIST1H3C	26153705	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.875000	0.87205	2.529000	0.85273	0.591000	0.81541	GCT	HIST1H3C	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000196532		0.607	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	23	0.00	0	G	NM_003531		26045726	26045726	+1	no_errors	ENST00000540144	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	1.000	C
HACE1	57531	genome.wustl.edu	37	6	105244542	105244542	+	Silent	SNP	G	G	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr6:105244542G>C	ENST00000262903.4	-	9	1080	c.804C>G	c.(802-804)ctC>ctG	p.L268L	HACE1_ENST00000369125.2_Silent_p.L268L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	268					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTTTTCTCGGAGGTCTTCAT	0.348																																						dbGAP											0													76.0	76.0	76.0					6																	105244542		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.804C>G	6.37:g.105244542G>C			A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.L268	ENST00000262903.4	37	c.804	CCDS5050.1	6																																																																																			HACE1	-	NULL	ENSG00000085382		0.348	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	195	0.00	0	G	XM_045095		105244542	105244542	-1	no_errors	ENST00000262903	ensembl	human	known	69_37n	silent	128	87.45	906	SNP	0.198	C
IGHA1	3493	genome.wustl.edu	37	14	106174386	106174386	+	RNA	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr14:106174386C>T	ENST00000390547.2	-	0	402							P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGCAGGTCCTCGAGGGCCGGT	0.607																																						dbGAP											0													41.0	46.0	45.0					14																	106174386		2115	4223	6338	-	-	-			0			J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106174386C>T				Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.E135K	ENST00000390547.2	37	c.403		14																																																																																			IGHA1	-	pfscan_Ig-like	ENSG00000211895		0.607	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHA1	HGNC	IG_C_gene	OTTHUMT00000326459.1	85	0.00	0	C	NG_001019		106174386	106174386	-1	no_start_codon	ENST00000390547	ensembl	human	known	69_37n	missense	159	18.46	36	SNP	0.414	T
ISLR	3671	genome.wustl.edu	37	15	74468053	74468053	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr15:74468053T>C	ENST00000249842.3	+	2	1211	c.854T>C	c.(853-855)gTg>gCg	p.V285A	ISLR_ENST00000395118.1_Missense_Mutation_p.V285A|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	285	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AGCCCCAACGTGGGCACTGAT	0.647																																						dbGAP											0													81.0	83.0	82.0					15																	74468053		2198	4297	6495	-	-	-	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.854T>C	15.37:g.74468053T>C	ENSP00000249842:p.Val285Ala			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like	p.V285A	ENST00000249842.3	37	c.854	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	T	6.498	0.460139	0.12342	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.62498	0.02;0.02	4.37	4.37	0.52481	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39274	U	0.001404	T	0.51398	0.1672	L	0.56769	1.78	0.09310	N	1	P	0.34934	0.476	B	0.29267	0.1	T	0.45585	-0.9251	10	0.30854	T	0.27	.	8.3682	0.32399	0.0:0.0896:0.0:0.9104	.	285	O14498	ISLR_HUMAN	A	285	ENSP00000249842:V285A;ENSP00000378550:V285A	ENSP00000249842:V285A	V	+	2	0	ISLR	72255106	0.978000	0.34361	0.309000	0.25155	0.168000	0.22595	1.420000	0.34804	1.618000	0.50286	0.260000	0.18958	GTG	ISLR	-	pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like	ENSG00000129009		0.647	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	12	0.00	0	T	NM_005545		74468053	74468053	+1	no_errors	ENST00000249842	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.026	C
KIAA0922	23240	genome.wustl.edu	37	4	154547305	154547305	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr4:154547305G>T	ENST00000409663.3	+	30	4101	c.4049G>T	c.(4048-4050)aGt>aTt	p.S1350I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1351I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1267I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1350						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCAGGAGACAGTGTTTCACAA	0.308																																						dbGAP											0													179.0	193.0	188.0					4																	154547305		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4049G>T	4.37:g.154547305G>T	ENSP00000386574:p.Ser1350Ile		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S1351I	ENST00000409663.3	37	c.4052	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169688	0.09339	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19105	2.43;2.17;2.43;2.17	5.4	-2.5	0.06384	.	1.096530	0.06748	N	0.779465	T	0.17746	0.0426	L	0.29908	0.895	0.09310	N	1	P;P;B	0.48640	0.913;0.546;0.411	P;B;B	0.46339	0.513;0.109;0.051	T	0.32613	-0.9900	10	0.66056	D	0.02	0.2984	6.5897	0.22639	0.406:0.3102:0.2837:0.0	.	1267;1351;1350	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	1350;1267;1351;1128	ENSP00000386574:S1350I;ENSP00000409663:S1267I;ENSP00000386787:S1351I;ENSP00000240487:S1128I	ENSP00000240487:S1128I	S	+	2	0	KIAA0922	154766755	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.825000	0.04433	-0.200000	0.10300	0.655000	0.94253	AGT	KIAA0922	-	NULL	ENSG00000121210		0.308	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	421	0.24	1	G	NM_015196		154547305	154547305	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	missense	225	29.15	93	SNP	0.000	T
KIF4A	24137	genome.wustl.edu	37	X	69510350	69510350	+	Silent	SNP	G	G	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chrX:69510350G>T	ENST00000374403.3	+	2	124	c.42G>T	c.(40-42)ctG>ctT	p.L14L	PDZD11_ENST00000239666.4_5'Flank|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Silent_p.L14L|PDZD11_ENST00000374454.1_5'Flank	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	14	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAGTGGCGCTGCGTTGTCGCC	0.567																																						dbGAP											0													80.0	69.0	73.0					X																	69510350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.42G>T	X.37:g.69510350G>T			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L14	ENST00000374403.3	37	c.42	CCDS14401.1	X																																																																																			KIF4A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000090889		0.567	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	79	0.00	0	G	NM_012310		69510350	69510350	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	silent	131	17.50	28	SNP	1.000	T
KIFC2	90990	genome.wustl.edu	37	8	145692700	145692700	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr8:145692700C>T	ENST00000301332.2	+	4	822	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	149					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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCAGCCCCTCGGGTCCGGCC	0.617											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													38.0	48.0	45.0					8																	145692700		2198	4294	6492	-	-	-	SO:0001583	missense	0			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.445C>T	8.37:g.145692700C>T	ENSP00000301332:p.Arg149Trp	1696	E9PHB2|Q96NN6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R149W	ENST00000301332.2	37	c.445	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930934	0.52866	.	.	ENSG00000167702	ENST00000301332	T	0.44083	0.93	4.5	-0.805	0.10879	.	2.393270	0.02406	N	0.081200	T	0.32285	0.0824	N	0.14661	0.345	0.09310	N	0.999999	D	0.60575	0.988	P	0.47346	0.544	T	0.25572	-1.0128	10	0.66056	D	0.02	1.4526	6.2112	0.20630	0.4068:0.3684:0.2247:0.0	.	149	Q96AC6	KIFC2_HUMAN	W	149	ENSP00000301332:R149W	ENSP00000301332:R149W	R	+	1	2	KIFC2	145663508	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.622000	0.05553	-0.272000	0.09259	0.563000	0.77884	CGG	KIFC2	-	NULL	ENSG00000167702		0.617	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	20	0.00	0	C	NM_145754		145692700	145692700	+1	no_errors	ENST00000301332	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.000	T
LUZP4	51213	genome.wustl.edu	37	X	114524334	114524334	+	Silent	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chrX:114524334G>A	ENST00000371920.3	+	1	16	c.9G>A	c.(7-9)tcG>tcA	p.S3S	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	3						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AGATGGCTTCGTTTCGGAAGC	0.532																																						dbGAP											0													108.0	85.0	93.0					X																	114524334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.9G>A	X.37:g.114524334G>A			B3KSD6	Silent	SNP	NULL	p.S3	ENST00000371920.3	37	c.9	CCDS14567.1	X																																																																																			LUZP4	-	NULL	ENSG00000102021		0.532	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LUZP4	HGNC	protein_coding	OTTHUMT00000057972.1	89	0.00	0	G	NM_016383		114524334	114524334	+1	no_errors	ENST00000371920	ensembl	human	known	69_37n	silent	70	14.63	12	SNP	0.031	A
MAGI1	9223	genome.wustl.edu	37	3	65342480	65342480	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr3:65342480C>T	ENST00000402939.2	-	23	3961	c.3962G>A	c.(3961-3963)cGg>cAg	p.R1321Q	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1350					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCTGGGGACCGCCTCTTGGG	0.711																																						dbGAP											0													37.0	40.0	39.0					3																	65342480		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3962G>A	3.37:g.65342480C>T	ENSP00000385450:p.Arg1321Gln		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1321Q	ENST00000402939.2	37	c.3962	CCDS33780.1	3	.	.	.	.	.	.	.	.	.	.	C	7.018	0.558137	0.13436	.	.	ENSG00000151276	ENST00000402939	T	0.12879	2.64	5.31	0.924	0.19418	.	0.351946	0.28784	N	0.014145	T	0.07638	0.0192	N	0.17082	0.46	0.09310	N	0.999999	B	0.12013	0.005	B	0.04013	0.001	T	0.32851	-0.9891	10	0.31617	T	0.26	-8.2417	10.0192	0.42033	0.0:0.5477:0.0:0.4523	.	1321	Q96QZ7-2	.	Q	1321	ENSP00000385450:R1321Q	ENSP00000385450:R1321Q	R	-	2	0	MAGI1	65317520	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.087000	0.14958	0.240000	0.21263	-0.140000	0.14226	CGG	MAGI1	-	NULL	ENSG00000151276		0.711	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349126.1	70	0.00	0	C	NM_004742		65342480	65342480	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.000	T
METAP2	10988	genome.wustl.edu	37	12	95905673	95905673	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr12:95905673A>T	ENST00000323666.5	+	9	1196	c.967A>T	c.(967-969)Aaa>Taa	p.K323*	METAP2_ENST00000261220.9_Nonsense_Mutation_p.K300*|METAP2_ENST00000550777.1_Nonsense_Mutation_p.K287*|METAP2_ENST00000546753.1_Nonsense_Mutation_p.K300*|METAP2_ENST00000551840.1_Nonsense_Mutation_p.K322*	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						TATAACAGTGAAACCAATCCG	0.353																																						dbGAP											0													81.0	75.0	77.0					12																	95905673		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.967A>T	12.37:g.95905673A>T	ENSP00000325312:p.Lys323*			Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.K323*	ENST00000323666.5	37	c.967	CCDS9052.1	12	.	.	.	.	.	.	.	.	.	.	A	37	6.055416	0.97241	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.7588	16.3469	0.83138	1.0:0.0:0.0:0.0	.	.	.	.	X	323;300;300;287;322	.	ENSP00000261220:K300X	K	+	1	0	METAP2	94429804	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.887000	0.92456	2.263000	0.75096	0.528000	0.53228	AAA	METAP2	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	ENSG00000111142		0.353	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1	132	0.00	0	A	NM_006838		95905673	95905673	+1	no_errors	ENST00000323666	ensembl	human	known	69_37n	nonsense	287	11.11	36	SNP	1.000	T
MYO18B	84700	genome.wustl.edu	37	22	26422713	26422713	+	Missense_Mutation	SNP	G	G	A	rs551701390	byFrequency	TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr22:26422713G>A	ENST00000407587.2	+	43	6945	c.6776G>A	c.(6775-6777)cGg>cAg	p.R2259Q	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2258Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2258Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2258						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGGGCTCCGGAGGAAGAGA	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16442	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													17.0	19.0	18.0					22																	26422713		1878	4094	5972	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6776G>A	22.37:g.26422713G>A	ENSP00000386096:p.Arg2259Gln		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R2258Q	ENST00000407587.2	37	c.6773		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.951451|4.951451	0.92660|0.92660	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.95756	.|-3.77;-3.77;-3.8	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.45361	.|D	.|0.000380	D|D	0.97120|0.97120	0.9059|0.9059	M|M	0.66939|0.66939	2.045|2.045	0.36045|0.36045	D|D	0.840353|0.840353	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.997;0.994;0.994;0.997;0.997	D|D	0.99919|0.99919	1.1242|1.1242	5|10	.|0.49607	.|T	.|0.09	.|.	16.1157|16.1157	0.81304|0.81304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1771;2260;2258;2259;2258	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	R|Q	208|2258;2258;2259	.|ENSP00000441229:R2258Q;ENSP00000334563:R2258Q;ENSP00000386096:R2259Q	.|ENSP00000334563:R2258Q	G|R	+|+	1|2	0|0	MYO18B|MYO18B	24752713|24752713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.698000|6.698000	0.74608|0.74608	2.152000|2.152000	0.67230|0.67230	0.313000|0.313000	0.20887|0.20887	GGA|CGG	MYO18B	-	NULL	ENSG00000133454		0.627	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	16	0.00	0	G	NM_032608		26422713	26422713	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	A
NOX4	50507	genome.wustl.edu	37	11	89106652	89106652	+	Silent	SNP	A	A	G			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr11:89106652A>G	ENST00000263317.4	-	12	1321	c.1083T>C	c.(1081-1083)acT>acC	p.T361T	NOX4_ENST00000343727.5_Silent_p.T337T|NOX4_ENST00000413594.2_Silent_p.T382T|NOX4_ENST00000375979.3_Silent_p.T54T|NOX4_ENST00000527626.1_Silent_p.T195T|NOX4_ENST00000528341.1_Silent_p.T336T|NOX4_ENST00000424319.1_Silent_p.T337T|NOX4_ENST00000532825.1_Silent_p.T337T|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.T361T|NOX4_ENST00000535633.1_Silent_p.T337T|NOX4_ENST00000542487.1_Silent_p.T337T|NOX4_ENST00000527956.1_Silent_p.T337T|NOX4_ENST00000531342.1_Silent_p.T54T			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	361	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTTGGTTTCAGTTGGACACT	0.294																																						dbGAP											0													86.0	96.0	93.0					11																	89106652		2201	4288	6489	-	-	-	SO:0001819	synonymous_variant	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1083T>C	11.37:g.89106652A>G			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom,tigrfam_Znf_LSD1	p.L213P	ENST00000263317.4	37	c.638	CCDS8285.1	11																																																																																			NOX4	-	NULL	ENSG00000086991		0.294	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	110	0.00	0	A	NM_016931		89106652	89106652	-1	no_errors	ENST00000529343	ensembl	human	known	69_37n	missense	41	53.93	48	SNP	1.000	G
OR4K2	390431	genome.wustl.edu	37	14	20345239	20345239	+	Silent	SNP	G	G	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr14:20345239G>T	ENST00000298642.2	+	1	849	c.813G>T	c.(811-813)ctG>ctT	p.L271L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAAGATTCTGTCTGTGTTTT	0.388																																						dbGAP											0													145.0	145.0	145.0					14																	20345239		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.813G>T	14.37:g.20345239G>T			B2RNK8|Q6IFA5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L271	ENST00000298642.2	37	c.813	CCDS32023.1	14																																																																																			OR4K2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165762		0.388	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	175	0.00	0	G			20345239	20345239	+1	no_errors	ENST00000298642	ensembl	human	known	69_37n	silent	199	22.18	57	SNP	0.586	T
NRXN3	9369	genome.wustl.edu	37	14	79933659	79933659	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr14:79933659G>A	ENST00000557594.1	+	2	1296	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	NRXN3_ENST00000554719.1_Missense_Mutation_p.V747M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.V115M|NRXN3_ENST00000281127.7_Missense_Mutation_p.V115M|NRXN3_ENST00000335750.5_Missense_Mutation_p.V747M	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	115	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CCGCCTTGCCGTGGGCTTCAG	0.582																																						dbGAP											0													121.0	103.0	109.0					14																	79933659		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.343G>A	14.37:g.79933659G>A	ENSP00000451672:p.Val115Met		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1109M	ENST00000557594.1	37	c.3325		14	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878615	0.91740	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78924	-1.22;-1.22;0.96;0.96;0.96	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.79805	2.47	0.58432	D	0.99999	D;D;D;P	0.89917	1.0;1.0;1.0;0.636	D;D;D;B	0.75484	0.97;0.986;0.967;0.212	D	0.88096	0.2816	9	.	.	.	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	115;115;115;747	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	M	1120;1109;747;747;115;115;115	ENSP00000451648:V747M;ENSP00000338349:V747M;ENSP00000451672:V115M;ENSP00000281127:V115M;ENSP00000394426:V115M	.	V	+	1	0	NRXN3	79003412	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	7.995000	0.88328	2.797000	0.96272	0.655000	0.94253	GTG	NRXN3	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.582	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	43	0.00	0	G	NM_001105250		79933659	79933659	+1	no_errors	ENST00000554738	ensembl	human	known	69_37n	missense	75	21.43	21	SNP	1.000	A
OTOF	9381	genome.wustl.edu	37	2	26696148	26696148	+	Silent	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr2:26696148G>A	ENST00000272371.2	-	29	3711	c.3585C>T	c.(3583-3585)aaC>aaT	p.N1195N	OTOF_ENST00000339598.3_Silent_p.N448N|OTOF_ENST00000338581.6_Silent_p.N448N|OTOF_ENST00000402415.3_Silent_p.N505N|OTOF_ENST00000403946.3_Silent_p.N1195N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1195					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCAGCTCGTTCTCTGGGA	0.657																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													62.0	60.0	60.0					2																	26696148		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3585C>T	2.37:g.26696148G>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R51*	ENST00000272371.2	37	c.151	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104270	0.20632	.	.	ENSG00000115155	ENST00000426958	.	.	.	4.93	-5.13	0.02884	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-35.7885	13.7027	0.62620	0.7376:0.0:0.2624:0.0	.	.	.	.	X	51	.	.	R	-	1	2	OTOF	26549652	0.000000	0.05858	0.816000	0.32577	0.962000	0.63368	-1.532000	0.02217	-0.966000	0.03587	0.305000	0.20034	CGA	OTOF	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000115155		0.657	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	55	0.00	0	G			26696148	26696148	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426958	ensembl	human	putative	69_37n	nonsense	58	15.94	11	SNP	0.956	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	117	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	70	53.33	80	SNP	1.000	G
PSIP1	11168	genome.wustl.edu	37	9	15469016	15469016	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr9:15469016G>A	ENST00000380733.4	-	13	1488	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	PSIP1_ENST00000380738.4_Missense_Mutation_p.S382L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	382					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GACCTGAAGTGAAGCAAGTTC	0.348																																						dbGAP											0													99.0	89.0	92.0					9																	15469016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1145C>T	9.37:g.15469016G>A	ENSP00000370109:p.Ser382Leu		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP,smart_PWWP,prints_Treacle-like_TCS,pfscan_PWWP	p.S382L	ENST00000380733.4	37	c.1145	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997073	0.93167	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.45668	0.89;0.89	5.55	5.55	0.83447	.	0.058241	0.64402	D	0.000001	T	0.58278	0.2111	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.58668	-0.7596	10	0.72032	D	0.01	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	382	O75475	PSIP1_HUMAN	L	382	ENSP00000370109:S382L;ENSP00000370114:S382L	ENSP00000370109:S382L	S	-	2	0	PSIP1	15459016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.339000	0.79282	2.766000	0.95052	0.650000	0.86243	TCA	PSIP1	-	pfam_LEDGF	ENSG00000164985		0.348	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	133	0.75	1	G	NM_033222		15469016	15469016	-1	no_errors	ENST00000380733	ensembl	human	known	69_37n	missense	72	27.27	27	SNP	1.000	A
PTCHD3	374308	genome.wustl.edu	37	10	27702625	27702625	+	Silent	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr10:27702625C>T	ENST00000438700.3	-	1	672	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	185					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AATGGCCCTGCACGAAGCGCC	0.617																																						dbGAP											0													91.0	100.0	97.0					10																	27702625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.555G>A	10.37:g.27702625C>T			I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.V185	ENST00000438700.3	37	c.555	CCDS31173.1	10																																																																																			PTCHD3	-	pfam_Patched	ENSG00000182077		0.617	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	18	0.00	0	C	XM_370541		27702625	27702625	-1	no_errors	ENST00000438700	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	0.389	T
SPHKAP	80309	genome.wustl.edu	37	2	228883499	228883499	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr2:228883499C>A	ENST00000392056.3	-	7	2117	c.2071G>T	c.(2071-2073)Gac>Tac	p.D691Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D691Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	691						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATTGGGGTCGATTATCATA	0.398																																						dbGAP											0													253.0	230.0	238.0					2																	228883499		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2071G>T	2.37:g.228883499C>A	ENSP00000375909:p.Asp691Tyr		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.D691Y	ENST00000392056.3	37	c.2071	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	5.345	0.249035	0.10130	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.48201	0.82;0.82	5.62	-1.91	0.07641	.	0.851972	0.10770	N	0.636066	T	0.33818	0.0876	L	0.53249	1.67	0.09310	N	1	P;P	0.48764	0.468;0.915	B;B	0.40940	0.138;0.344	T	0.26087	-1.0113	10	0.52906	T	0.07	.	0.5078	0.00590	0.2413:0.2304:0.144:0.3844	.	691;691	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	691	ENSP00000375909:D691Y;ENSP00000339886:D691Y	ENSP00000339886:D691Y	D	-	1	0	SPHKAP	228591743	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.136000	0.31467	-0.349000	0.08274	-0.766000	0.03442	GAC	SPHKAP	-	NULL	ENSG00000153820		0.398	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	227	0.00	0	C	NM_030623		228883499	228883499	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	152	30.91	68	SNP	0.000	A
SPRED1	161742	genome.wustl.edu	37	15	38591723	38591723	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr15:38591723G>A	ENST00000299084.4	+	2	1042	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	61	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTTTTATCCGTGGAGAGCGA	0.383									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	dbGAP											0													108.0	93.0	98.0					15																	38591723		2200	4297	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.182G>A	15.37:g.38591723G>A	ENSP00000299084:p.Arg61His		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.R61H	ENST00000299084.4	37	c.182	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	4.338	0.062123	0.08339	.	.	ENSG00000166068	ENST00000299084	D	0.86297	-2.1	5.72	2.27	0.28462	EVH1 (2);Pleckstrin homology-type (1);	0.302377	0.41396	N	0.000899	T	0.64338	0.2589	N	0.02202	-0.64	0.34688	D	0.725445	B	0.14438	0.01	B	0.06405	0.002	T	0.58188	-0.7680	10	0.13470	T	0.59	-22.5659	7.0514	0.25075	0.4824:0.0:0.5176:0.0	.	61	Q7Z699	SPRE1_HUMAN	H	61	ENSP00000299084:R61H	ENSP00000299084:R61H	R	+	2	0	SPRED1	36379015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.117000	0.41939	0.723000	0.32274	0.655000	0.94253	CGT	SPRED1	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000166068		0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	90	0.00	0	G			38591723	38591723	+1	no_errors	ENST00000299084	ensembl	human	known	69_37n	missense	61	27.38	23	SNP	1.000	A
TMC5	79838	genome.wustl.edu	37	16	19481012	19481012	+	Silent	SNP	G	G	A			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr16:19481012G>A	ENST00000396229.2	+	10	2396	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K	TMC5_ENST00000542583.2_Silent_p.K549K|TMC5_ENST00000561503.1_Silent_p.K190K|TMC5_ENST00000381414.4_Silent_p.K549K|TMC5_ENST00000564959.1_Silent_p.K232K|TMC5_ENST00000219821.5_Silent_p.K303K|TMC5_ENST00000541464.1_Silent_p.K549K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	549					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCATGGCCAAGTATTTCCGGA	0.468																																						dbGAP											0													113.0	104.0	107.0					16																	19481012		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1647G>A	16.37:g.19481012G>A			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	pfam_TMC	p.K549	ENST00000396229.2	37	c.1647	CCDS45431.1	16																																																																																			TMC5	-	NULL	ENSG00000103534		0.468	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	127	0.00	0	G	NM_024780		19481012	19481012	+1	no_errors	ENST00000396229	ensembl	human	known	69_37n	silent	127	20.00	32	SNP	0.915	A
TP53	7157	genome.wustl.edu	37	17	7578538	7578538	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr17:7578538delT	ENST00000269305.4	-	5	581	c.392delA	c.(391-393)aacfs	p.N131fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N131fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N131fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)	AAACATCTTGTTGAGGGCAGG	0.557		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	47	Deletion - In frame(21)|Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)	breast(8)|central_nervous_system(7)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|liver(4)|lung(3)|adrenal_gland(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|stomach(1)|biliary_tract(1)|pancreas(1)											46.0	46.0	46.0					17																	7578538		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	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.392delA	17.37:g.7578538delT	ENSP00000269305:p.Asn131fs		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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N131fs	ENST00000269305.4	37	c.392	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	64	0.00	0	T	NM_000546		7578538	7578538	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	33	56.41	44	DEL	1.000	-
TRAK2	66008	genome.wustl.edu	37	2	202245617	202245617	+	Silent	SNP	G	G	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr2:202245617G>C	ENST00000332624.3	-	16	2822	c.2394C>G	c.(2392-2394)ctC>ctG	p.L798L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	798					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATTTTCAGAGAGATGCACTC	0.517																																						dbGAP											0													88.0	89.0	89.0					2																	202245617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2394C>G	2.37:g.202245617G>C			E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.L798	ENST00000332624.3	37	c.2394	CCDS2347.1	2																																																																																			TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.517	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	96	0.00	0	G	NM_015049		202245617	202245617	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	silent	65	38.10	40	SNP	0.931	C
ULK4P2	100288380	genome.wustl.edu	37	15	32720492	32720492	+	RNA	SNP	G	G	C	rs200200663	byFrequency	TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr15:32720492G>C	ENST00000562108.1	-	0	176				U8_ENST00000384260.1_RNA|ULK4P1_ENST00000565949.1_RNA																							TCCAGGTCCTGCTGACTCAGG	0.398																																						dbGAP											0																																										-	-	-			0																															15.37:g.32720492G>C				RNA	SNP	-	NULL	ENST00000562108.1	37	NULL		15																																																																																			ULK4P1	-	-	ENSG00000215304		0.398	RP13-395E19.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	ULK4P1	HGNC	processed_transcript	OTTHUMT00000429843.1	11	0.00	0	G			32720492	32720492	-1	no_errors	ENST00000562108	ensembl	human	known	69_37n	rna	12	29.41	5	SNP	1.000	C
WDR33	55339	genome.wustl.edu	37	2	128463985	128463985	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr2:128463985C>T	ENST00000322313.4	-	22	4081	c.3923G>A	c.(3922-3924)cGg>cAg	p.R1308Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1308					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)		ACTGCCACTCCGGCCCCCTCG	0.622																																						dbGAP											0													94.0	104.0	100.0					2																	128463985		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.3923G>A	2.37:g.128463985C>T	ENSP00000325377:p.Arg1308Gln		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1308Q	ENST00000322313.4	37	c.3923	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363177	0.82353	.	.	ENSG00000136709	ENST00000322313	D	0.91464	-2.85	5.23	5.23	0.72850	.	0.180127	0.37715	N	0.001964	D	0.83834	0.5340	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	B	0.44108	0.441	D	0.86787	0.1983	10	0.51188	T	0.08	-11.6332	19.1669	0.93561	0.0:1.0:0.0:0.0	.	1308	Q9C0J8	WDR33_HUMAN	Q	1308	ENSP00000325377:R1308Q	ENSP00000325377:R1308Q	R	-	2	0	WDR33	128180455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.699000	0.68310	2.597000	0.87782	0.650000	0.86243	CGG	WDR33	-	NULL	ENSG00000136709		0.622	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	26	0.00	0	C	NM_018383		128463985	128463985	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	T
XRRA1	143570	genome.wustl.edu	37	11	74570222	74570222	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr11:74570222A>C	ENST00000340360.6	-	12	1458	c.1127T>G	c.(1126-1128)cTt>cGt	p.L376R	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGCCAGGCTAAGGTATCTCAG	0.522																																						dbGAP											0													64.0	65.0	64.0					11																	74570222		1934	4131	6065	-	-	-	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1127T>G	11.37:g.74570222A>C	ENSP00000339918:p.Leu376Arg			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L376R	ENST00000340360.6	37	c.1127	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378135	0.82682	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.62364	0.03	6.07	6.07	0.98685	.	.	.	.	.	T	0.78052	0.4223	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79652	-0.1714	9	0.56958	D	0.05	-9.8737	13.0206	0.58784	1.0:0.0:0.0:0.0	.	376	Q6P2D8	XRRA1_HUMAN	R	376;362	ENSP00000339918:L376R	ENSP00000339918:L376R	L	-	2	0	XRRA1	74247870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.247000	0.58750	2.326000	0.78906	0.533000	0.62120	CTT	XRRA1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000166435		0.522	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	80	0.00	0	A	NM_182969		74570222	74570222	-1	no_errors	ENST00000340360	ensembl	human	known	69_37n	missense	108	33.94	56	SNP	1.000	C
ZKSCAN4	387032	genome.wustl.edu	37	6	28214862	28214862	+	Silent	SNP	C	C	T			TCGA-C8-A130-01A-31D-A10Y-09	TCGA-C8-A130-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	da70101d-10c2-47ab-bce1-7757dcbb08a2	b5de4094-f708-472f-aeb6-a7ed61223af5	g.chr6:28214862C>T	ENST00000377294.2	-	4	906	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ZKSCAN4_ENST00000423974.2_Silent_p.L66L	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	221	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTTCCATTTTCAGCAAACCCT	0.453																																						dbGAP											0													108.0	94.0	99.0					6																	28214862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.663G>A	6.37:g.28214862C>T			B2RE32|Q5U7L4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L221	ENST00000377294.2	37	c.663	CCDS4647.1	6																																																																																			ZKSCAN4	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000187626		0.453	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	77	0.00	0	C	NM_019110		28214862	28214862	-1	no_errors	ENST00000377294	ensembl	human	known	69_37n	silent	93	19.66	23	SNP	0.988	T
