#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTG1	71	genome.wustl.edu	37	17	79478402	79478402	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr17:79478402T>C	ENST00000575842.1	-	3	1040	c.614A>G	c.(613-615)gAg>gGg	p.E205G	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.E205G|ACTG1_ENST00000573283.1_Missense_Mutation_p.E205G|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.E205G			P63261	ACTG_HUMAN	actin, gamma 1	205					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GATTTCCCGCTCGGCCGTGGT	0.627																																						dbGAP											0													59.0	63.0	61.0					17																	79478402		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.614A>G	17.37:g.79478402T>C	ENSP00000458162:p.Glu205Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E205G	ENST00000575842.1	37	c.614	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	t	13.62	2.291914	0.40594	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97665	-4.48	4.56	3.47	0.39725	.	0.000000	0.64402	D	0.000001	D	0.98337	0.9448	H	0.98111	4.15	0.46586	D	0.99911	B	0.27679	0.185	B	0.41723	0.365	D	0.97440	1.0021	10	0.87932	D	0	.	10.4413	0.44466	0.0:0.0:0.1644:0.8356	.	205	P63261	ACTG_HUMAN	G	205;163	ENSP00000331514:E205G	ENSP00000331514:E205G	E	-	2	0	ACTG1	77092997	1.000000	0.71417	0.733000	0.30861	0.937000	0.57800	7.607000	0.82883	0.614000	0.30107	0.452000	0.29995	GAG	ACTG1	-	pfam_Actin-like,smart_Actin-like	ENSG00000184009		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	23	0.00	0	T	NM_001614		79478402	79478402	-1	no_errors	ENST00000331925	ensembl	human	known	69_37n	missense	7	65.00	13	SNP	1.000	C
ANK1	286	genome.wustl.edu	37	8	41526060	41526060	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr8:41526060C>A	ENST00000347528.4	-	39	5202	c.5119G>T	c.(5119-5121)Ggc>Tgc	p.G1707C	ANK1_ENST00000396942.1_Missense_Mutation_p.G1707C|ANK1_ENST00000265709.8_Missense_Mutation_p.G1748C|ANK1_ENST00000289734.7_Missense_Mutation_p.G1707C|ANK1_ENST00000352337.4_Missense_Mutation_p.G1707C|ANK1_ENST00000379758.2_Missense_Mutation_p.G1707C|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Missense_Mutation_p.G1707C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1707	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACAATCGAGCCGTCTGCATCC	0.552																																						dbGAP											0													91.0	72.0	78.0					8																	41526060		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5119G>T	8.37:g.41526060C>A	ENSP00000339620:p.Gly1707Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1707C	ENST00000347528.4	37	c.5119	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.45|11.45	1.641716|1.641716	0.29157|0.29157	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709|ENST00000520299	T;T;T;T;T;T;T|.	0.68479|.	-0.3;-0.29;-0.28;-0.33;-0.27;-0.29;-0.3|.	4.22|4.22	3.33|3.33	0.38152|0.38152	.|.	0.301944|.	0.29668|.	N|.	0.011509|.	T|T	0.50820|0.50820	0.1638|0.1638	L|L	0.34521|0.34521	1.04|1.04	0.42614|0.42614	D|D	0.993326|0.993326	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;0.995;1.0;1.0;0.998|.	D;P;P;D;D;P|.	0.72625|.	0.978;0.904;0.756;0.966;0.978;0.849|.	T|T	0.42949|0.42949	-0.9421|-0.9421	10|5	0.66056|.	D|.	0.02|.	.|.	9.6467|9.6467	0.39872|0.39872	0.0:0.9016:0.0:0.0984|0.0:0.9016:0.0:0.0984	.|.	1748;1545;1707;1707;1707;861|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	C|L	1707;1707;1707;1707;1707;1707;1748|866	ENSP00000339620:G1707C;ENSP00000289734:G1707C;ENSP00000369082:G1707C;ENSP00000380149:G1707C;ENSP00000380147:G1707C;ENSP00000309131:G1707C;ENSP00000265709:G1748C|.	ENSP00000265709:G1748C|.	G|R	-|-	1|2	0|0	ANK1|ANK1	41645217|41645217	1.000000|1.000000	0.71417|0.71417	0.783000|0.783000	0.31826|0.31826	0.104000|0.104000	0.19210|0.19210	4.278000|4.278000	0.58946|0.58946	1.147000|1.147000	0.42369|0.42369	0.462000|0.462000	0.41574|0.41574	GGC|CGG	ANK1	-	NULL	ENSG00000029534		0.552	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	220	0.00	0	C	NM_020475		41526060	41526060	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	13	64.86	24	SNP	0.953	A
ANKS6	203286	genome.wustl.edu	37	9	101530484	101530484	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr9:101530484T>A	ENST00000353234.4	-	11	2068	c.2021A>T	c.(2020-2022)aAa>aTa	p.K674I	ANKS6_ENST00000375018.1_Missense_Mutation_p.K674I|ANKS6_ENST00000375019.2_Missense_Mutation_p.K373I|ANKS6_ENST00000540940.1_Missense_Mutation_p.K479I			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	674	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCGGCTGCTTTTTTCCTCTG	0.567																																						dbGAP											0													55.0	59.0	57.0					9																	101530484		1959	4163	6122	-	-	-	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2021A>T	9.37:g.101530484T>A	ENSP00000297837:p.Lys674Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.K674I	ENST00000353234.4	37	c.2021	CCDS43856.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.135301|4.135301	0.77662|0.77662	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|T	0.72615|0.70045	1.51;-0.67;-0.65;1.73|-0.45	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.087592|0.087592	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.73102|0.73102	0.3544|0.3544	L|L	0.56769|0.56769	1.78|1.78	0.39447|0.39447	D|D	0.967332|0.967332	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.73372|0.73372	-0.4003|-0.4003	10|8	0.72032|0.37606	D|T	0.01|0.19	-17.7189|-17.7189	14.2508|14.2508	0.66019|0.66019	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	674;674|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	I|N	373;674;674;479|142	ENSP00000364159:K373I;ENSP00000364158:K674I;ENSP00000297837:K674I;ENSP00000442189:K479I|ENSP00000398648:K142N	ENSP00000297837:K674I|ENSP00000398648:K142N	K|K	-|-	2|3	0|2	ANKS6|ANKS6	100570305|100570305	1.000000|1.000000	0.71417|0.71417	0.834000|0.834000	0.33040|0.33040	0.878000|0.878000	0.50629|0.50629	3.418000|3.418000	0.52721|0.52721	2.257000|2.257000	0.74773|0.74773	0.459000|0.459000	0.35465|0.35465	AAA|AAA	ANKS6	-	NULL	ENSG00000165138		0.567	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	38	0.00	0	T	NM_173551		101530484	101530484	-1	no_errors	ENST00000375018	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.934	A
APOOL	139322	genome.wustl.edu	37	X	84329041	84329041	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chrX:84329041T>A	ENST00000373173.2	+	7	611	c.524T>A	c.(523-525)aTt>aAt	p.I175N		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	175						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCCAGCAAATTTTTGGAGCA	0.299																																						dbGAP											0													49.0	38.0	41.0					X																	84329041		1778	4001	5779	-	-	-	SO:0001583	missense	0			AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"""chromosome X open reading frame 33"", ""family with sequence similarity 121A"""	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.524T>A	X.37:g.84329041T>A	ENSP00000362268:p.Ile175Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU7|Q5H9D1	Missense_Mutation	SNP	pfam_Apolipoprotein_O	p.I175N	ENST00000373173.2	37	c.524	CCDS48138.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.559|3.559	-0.090029|-0.090029	0.07053|0.07053	.|.	.|.	ENSG00000155008|ENSG00000155008	ENST00000373169|ENST00000373173	.|.	.|.	.|.	5.01|5.01	3.85|3.85	0.44370|0.44370	.|.	0.600105|.	0.19446|.	N|.	0.114064|.	T|T	0.38719|0.38719	0.1051|0.1051	L|L	0.57536|0.57536	1.79|1.79	0.23168|0.23168	N|N	0.998186|0.998186	.|B	.|0.33826	.|0.427	.|B	.|0.37650	.|0.255	T|T	0.25047|0.25047	-1.0143|-1.0143	7|8	0.05959|0.25751	T|T	0.93|0.34	-6.856|-6.856	6.5455|6.5455	0.22404|0.22404	0.0:0.1085:0.0:0.8915|0.0:0.1085:0.0:0.8915	.|.	.|175	.|Q6UXV4	.|APOOL_HUMAN	I|N	175|175	.|.	ENSP00000362264:F175I|ENSP00000362268:I175N	F|I	+|+	1|2	0|0	APOOL|APOOL	84215697|84215697	0.993000|0.993000	0.37304|0.37304	0.959000|0.959000	0.39883|0.39883	0.118000|0.118000	0.20060|0.20060	1.561000|1.561000	0.36342|0.36342	0.721000|0.721000	0.32231|0.32231	-0.335000|-0.335000	0.08231|0.08231	TTT|ATT	APOOL	-	pfam_Apolipoprotein_O	ENSG00000155008		0.299	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOOL	HGNC	protein_coding	OTTHUMT00000057385.2	103	0.96	1	T	NM_198450		84329041	84329041	+1	no_errors	ENST00000373173	ensembl	human	known	69_37n	missense	44	42.86	33	SNP	0.967	A
ARHGAP31	57514	genome.wustl.edu	37	3	119128524	119128524	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr3:119128524G>C	ENST00000264245.4	+	11	2359	c.1827G>C	c.(1825-1827)gaG>gaC	p.E609D		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	609					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAAATCCGGAGAAGGTGGTGG	0.572																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													25.0	29.0	28.0					3																	119128524		1948	4149	6097	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1827G>C	3.37:g.119128524G>C	ENSP00000264245:p.Glu609Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E609D	ENST00000264245.4	37	c.1827	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517174	0.27123	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07216	3.21	5.27	5.27	0.74061	.	0.100740	0.43579	D	0.000556	T	0.08802	0.0218	L	0.40543	1.245	0.34927	D	0.749028	B	0.29531	0.247	B	0.29598	0.104	T	0.21552	-1.0242	10	0.27785	T	0.31	.	14.2658	0.66116	0.0:0.0:1.0:0.0	.	609	Q2M1Z3	RHG31_HUMAN	D	609	ENSP00000264245:E609D	ENSP00000264245:E609D	E	+	3	2	ARHGAP31	120611214	1.000000	0.71417	0.995000	0.50966	0.415000	0.31203	1.301000	0.33447	2.737000	0.93849	0.563000	0.77884	GAG	ARHGAP31	-	NULL	ENSG00000031081		0.572	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	138	0.00	0	G			119128524	119128524	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	0.995	C
ARHGEF10L	55160	genome.wustl.edu	37	1	17991021	17991021	+	Silent	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr1:17991021G>A	ENST00000361221.3	+	26	3099	c.2940G>A	c.(2938-2940)ctG>ctA	p.L980L	ARHGEF10L_ENST00000167825.4_Silent_p.L683L|ARHGEF10L_ENST00000434513.1_Silent_p.L975L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Silent_p.L941L|ARHGEF10L_ENST00000375408.3_Silent_p.L753L|ARHGEF10L_ENST00000452522.1_Silent_p.L941L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	980						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGTTGAGCCTGGAGGATGCCG	0.672																																						dbGAP											0													48.0	48.0	48.0					1																	17991021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2940G>A	1.37:g.17991021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.L980	ENST00000361221.3	37	c.2940	CCDS182.1	1																																																																																			ARHGEF10L	-	superfamily_WD40_repeat_dom	ENSG00000074964		0.672	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	60	0.00	0	G	NM_018125		17991021	17991021	+1	no_errors	ENST00000361221	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	1.000	A
ASPM	259266	genome.wustl.edu	37	1	197102711	197102711	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr1:197102711G>T	ENST00000367409.4	-	6	2444	c.2188C>A	c.(2188-2190)Ctt>Att	p.L730I	ASPM_ENST00000294732.7_Missense_Mutation_p.L730I|ASPM_ENST00000367408.1_5'UTR	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	730					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCCAAAAGAAGAGTAGCAGCA	0.338																																						dbGAP											0													72.0	68.0	69.0					1																	197102711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2188C>A	1.37:g.197102711G>T	ENSP00000356379:p.Leu730Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L730I	ENST00000367409.4	37	c.2188	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342507	0.41498	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.60797	0.16;1.43	5.02	1.98	0.26296	.	0.097808	0.41712	N	0.000829	T	0.46560	0.1399	L	0.48362	1.52	0.43841	D	0.996422	B;P	0.48503	0.379;0.911	B;B	0.40741	0.105;0.339	T	0.36456	-0.9747	10	0.51188	T	0.08	.	8.723	0.34452	0.0714:0.0:0.659:0.2696	.	730;730	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	I	730	ENSP00000356379:L730I;ENSP00000294732:L730I	ENSP00000294732:L730I	L	-	1	0	ASPM	195369334	1.000000	0.71417	0.486000	0.27416	0.987000	0.75469	1.067000	0.30616	0.205000	0.20568	0.585000	0.79938	CTT	ASPM	-	NULL	ENSG00000066279		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	72	0.00	0	G	NM_018136		197102711	197102711	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	51	24.64	17	SNP	0.926	T
ASXL1	171023	genome.wustl.edu	37	20	31022366	31022367	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr20:31022366_31022367insA	ENST00000375687.4	+	13	2275_2276	c.1851_1852insA	c.(1852-1854)aaafs	p.K618fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.K613fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	618	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K618fs*1(3)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGCAGACATTAAAGCCCGTGC	0.658			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1854dupA	20.37:g.31022369_31022369dupA	ENSP00000364839:p.Lys618fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Ins	INS	NULL	p.A618fs	ENST00000375687.4	37	c.1851_1852	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.658	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	8	0.00	0	-	NM_015338		31022366	31022367	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	1.000:1.000	A
BCO1	53630	genome.wustl.edu	37	16	81301669	81301669	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr16:81301669A>T	ENST00000258168.2	+	6	1237	c.776A>T	c.(775-777)aAg>aTg	p.K259M	BCMO1_ENST00000425577.2_Missense_Mutation_p.K190M	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GATATTCTCAAGATGGCAACC	0.562																																						dbGAP											0													126.0	105.0	112.0					16																	81301669		2202	4300	6502	-	-	-	SO:0001583	missense	0																														ENST00000258168.2:c.776A>T	16.37:g.81301669A>T	ENSP00000258168:p.Lys259Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.K259M	ENST00000258168.2	37	c.776	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	a	23.6	4.435580	0.83885	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95238	-3.65;-3.65	5.22	5.22	0.72569	.	0.103173	0.64402	D	0.000003	D	0.97766	0.9267	M	0.92169	3.28	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.974	D	0.98570	1.0645	10	0.59425	D	0.04	-22.1563	15.166	0.72825	1.0:0.0:0.0:0.0	.	190;259	E7EM88;Q9HAY6	.;BCDO1_HUMAN	M	259;190	ENSP00000258168:K259M;ENSP00000400586:K190M	ENSP00000258168:K259M	K	+	2	0	BCMO1	79859170	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.809000	0.69172	1.971000	0.57363	0.319000	0.21371	AAG	BCMO1	-	pfam_Carotenoid_Oase	ENSG00000135697		0.562	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	345	0.29	1	A			81301669	81301669	+1	no_errors	ENST00000258168	ensembl	human	known	69_37n	missense	80	27.27	30	SNP	1.000	T
BPIFC	254240	genome.wustl.edu	37	22	32853309	32853309	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr22:32853309G>T	ENST00000397452.1	-	2	175	c.65C>A	c.(64-66)tCc>tAc	p.S22Y	BPIFC_ENST00000397450.1_Missense_Mutation_p.S22Y|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.S22Y			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	22						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GGTCTGAGAGGATGAGACATA	0.443											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													130.0	119.0	123.0					22																	32853309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.65C>A	22.37:g.32853309G>T	ENSP00000380594:p.Ser22Tyr	Somatic	835	WXS	Illumina GAIIx	Phase_IV	A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S22Y	ENST00000397452.1	37	c.65	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	g	5.715	0.316468	0.10789	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000397450	T;T	0.05513	3.43;3.43	4.83	4.83	0.62350	.	1.078430	0.07018	N	0.826348	T	0.21307	0.0513	M	0.77820	2.39	0.80722	D	1	D;D	0.63880	0.993;0.963	P;P	0.61592	0.891;0.707	T	0.39623	-0.9605	10	0.05721	T	0.95	-2.544	13.4588	0.61214	0.0:0.0:1.0:0.0	.	22;22	Q5TI88;Q8NFQ6	.;BPIFC_HUMAN	Y	22	ENSP00000380594:S22Y;ENSP00000300399:S22Y	ENSP00000300399:S22Y	S	-	2	0	BPIFC	31183309	0.059000	0.20769	0.005000	0.12908	0.113000	0.19764	3.055000	0.49916	2.242000	0.73789	0.539000	0.68188	TCC	BPIFC	-	NULL	ENSG00000184459		0.443	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	201	0.00	0	G	NM_174932		32853309	32853309	-1	no_errors	ENST00000300399	ensembl	human	known	69_37n	missense	73	31.13	33	SNP	0.011	T
C4BPA	722	genome.wustl.edu	37	1	207288791	207288791	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr1:207288791G>A	ENST00000367070.3	+	4	553	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	120	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAGAGTTACGTAATGGGCAA	0.363																																						dbGAP											0													102.0	100.0	101.0					1																	207288791		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.359G>A	1.37:g.207288791G>A	ENSP00000356037:p.Arg120His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVQ8	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R120H	ENST00000367070.3	37	c.359	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719741	0.15372	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.64991	-0.13;-0.13	5.14	-5.75	0.02384	Complement control module (2);Sushi/SCR/CCP (3);	2.212360	0.01613	N	0.022602	T	0.36880	0.0983	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12293	-1.0553	10	0.41790	T	0.15	.	1.3062	0.02089	0.3714:0.145:0.3095:0.174	.	120	P04003	C4BPA_HUMAN	H	120	ENSP00000356037:R120H;ENSP00000403386:R120H	ENSP00000356037:R120H	R	+	2	0	C4BPA	205355414	0.000000	0.05858	0.057000	0.19452	0.196000	0.23810	-1.063000	0.03465	-0.613000	0.05694	-0.204000	0.12730	CGT	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000123838		0.363	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	177	0.56	1	G			207288791	207288791	+1	no_errors	ENST00000367070	ensembl	human	known	69_37n	missense	67	27.17	25	SNP	0.008	A
ZGRF1	55345	genome.wustl.edu	37	4	113544995	113544995	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr4:113544995C>G	ENST00000505019.1	-	4	265	c.140G>C	c.(139-141)aGt>aCt	p.S47T	C4orf21_ENST00000309071.5_Missense_Mutation_p.S47T|C4orf21_ENST00000445203.2_Missense_Mutation_p.S16T	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		47						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S47I(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGAAACAGACTCTCCAAACA	0.259																																						dbGAP											2	Substitution - Missense(2)	lung(2)											45.0	44.0	44.0					4																	113544995		2198	4283	6481	-	-	-	SO:0001583	missense	0																														ENST00000505019.1:c.140G>C	4.37:g.113544995C>G	ENSP00000424737:p.Ser47Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.S47T	ENST00000505019.1	37	c.140		4	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484313	0.63962	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	D;T;T	0.84516	-1.86;1.67;1.09	5.1	5.1	0.69264	Domain of unknown function DUF2439 (1);	0.087604	0.49916	D	0.000140	D	0.88644	0.6492	L	0.46157	1.445	0.27448	N	0.953512	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.942	T	0.82242	-0.0554	10	0.51188	T	0.08	-20.5578	11.6181	0.51102	0.0:0.9175:0.0:0.0825	.	47;47	Q86YA3;G5EA02	CD021_HUMAN;.	T	47;47;16;47	ENSP00000424737:S47T;ENSP00000309095:S47T;ENSP00000390505:S16T	ENSP00000309095:S47T	S	-	2	0	C4orf21	113764444	0.693000	0.27728	0.881000	0.34555	0.895000	0.52256	1.160000	0.31761	2.380000	0.81148	0.591000	0.81541	AGT	C4orf21	-	pfam_DUF2439	ENSG00000138658		0.259	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	103	0.00	0	C			113544995	113544995	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	0.980	G
CAPN1	823	genome.wustl.edu	37	11	64953645	64953645	+	Missense_Mutation	SNP	A	A	C	rs370154756		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:64953645A>C	ENST00000527323.1	+	5	835	c.595A>C	c.(595-597)Aat>Cat	p.N199H	CAPN1_ENST00000524773.1_Missense_Mutation_p.N199H|CAPN1_ENST00000533820.1_Missense_Mutation_p.N199H|CAPN1_ENST00000533129.1_Missense_Mutation_p.N199H|CAPN1_ENST00000279247.6_Missense_Mutation_p.N199H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	199	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCACAGGGTAAATGGCAGCTA	0.622																																						dbGAP											0													26.0	29.0	28.0					11																	64953645		1963	4150	6113	-	-	-	SO:0001583	missense	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.595A>C	11.37:g.64953645A>C	ENSP00000431984:p.Asn199His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TTR0|Q6DHV4	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.N199H	ENST00000527323.1	37	c.595	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153397	0.57259	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	4.42	4.42	0.53409	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	N	0.16708	0.43	0.80722	D	1	P	0.40794	0.729	B	0.42593	0.392	T	0.75456	-0.3311	10	0.22706	T	0.39	.	11.6445	0.51253	1.0:0.0:0.0:0.0	.	199	P07384	CAN1_HUMAN	H	199;199;199;199;145;199;94	ENSP00000435272:N199H;ENSP00000431686:N199H;ENSP00000434176:N199H;ENSP00000279247:N199H;ENSP00000431984:N199H;ENSP00000433366:N94H	ENSP00000259755:N145H	N	+	1	0	CAPN1	64710221	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	7.223000	0.78033	1.643000	0.50594	0.460000	0.39030	AAT	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000014216		0.622	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	104	0.00	0	A			64953645	64953645	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	missense	3	81.25	13	SNP	1.000	C
CCDC87	55231	genome.wustl.edu	37	11	66358801	66358801	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:66358801C>G	ENST00000333861.3	-	1	1753	c.1686G>C	c.(1684-1686)aaG>aaC	p.K562N	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	562					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGAGGGCATCTTCTTAGTAT	0.473																																						dbGAP											0													129.0	117.0	121.0					11																	66358801		2200	4295	6495	-	-	-	SO:0001583	missense	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1686G>C	11.37:g.66358801C>G	ENSP00000328487:p.Lys562Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NE76	Missense_Mutation	SNP	pfam_Microtubule-assoc_MAP65_ASE1	p.K562N	ENST00000333861.3	37	c.1686	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	9.585	1.124518	0.20959	.	.	ENSG00000182791	ENST00000333861	T	0.33654	1.4	4.6	0.56	0.17279	.	1.208240	0.06216	N	0.685899	T	0.30355	0.0762	L	0.53249	1.67	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.26467	-1.0102	10	0.27082	T	0.32	.	3.7884	0.08710	0.0:0.5079:0.1843:0.3078	.	562	Q9NVE4	CCD87_HUMAN	N	562	ENSP00000328487:K562N	ENSP00000328487:K562N	K	-	3	2	CCDC87	66115377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.099000	0.15210	0.253000	0.21552	0.462000	0.41574	AAG	CCDC87	-	NULL	ENSG00000182791		0.473	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	67	0.00	0	C	NM_018219		66358801	66358801	-1	no_errors	ENST00000333861	ensembl	human	known	69_37n	missense	28	51.72	30	SNP	0.000	G
CDADC1	81602	genome.wustl.edu	37	13	49830003	49830003	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr13:49830003T>C	ENST00000251108.6	+	3	319	c.206T>C	c.(205-207)tTa>tCa	p.L69S	CDADC1_ENST00000444959.1_5'UTR|CDADC1_ENST00000538056.1_Missense_Mutation_p.L69S|CDADC1_ENST00000496952.1_3'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	69							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		catggacccttaggagataat	0.299																																						dbGAP											0													80.0	86.0	84.0					13																	49830003		2203	4297	6500	-	-	-	SO:0001583	missense	0			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.206T>C	13.37:g.49830003T>C	ENSP00000251108:p.Leu69Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.L69S	ENST00000251108.6	37	c.206	CCDS9415.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.39|12.39	1.922366|1.922366	0.33908|0.33908	.|.	.|.	ENSG00000102543|ENSG00000102543	ENST00000538056;ENST00000251108|ENST00000429346	.|.	.|.	.|.	4.32|4.32	3.15|3.15	0.36227|0.36227	.|.	0.657121|.	0.13722|.	N|.	0.367330|.	T|.	0.34571|.	0.0902|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.06356|.	-1.0831|.	9|.	0.87932|.	D|.	0|.	-0.2917|-0.2917	6.4862|6.4862	0.22089|0.22089	0.0:0.1072:0.0:0.8928|0.0:0.1072:0.0:0.8928	.|.	69|.	Q9BWV3|.	CDAC1_HUMAN|.	S|Q	69|66	.|.	ENSP00000251108:L69S|.	L|X	+|+	2|1	0|0	CDADC1|CDADC1	48728004|48728004	0.792000|0.792000	0.28813|0.28813	0.762000|0.762000	0.31397|0.31397	0.992000|0.992000	0.81027|0.81027	1.027000|1.027000	0.30115|0.30115	0.999000|0.999000	0.39023|0.39023	0.455000|0.455000	0.32223|0.32223	TTA|TAG	CDADC1	-	NULL	ENSG00000102543		0.299	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDADC1	HGNC	protein_coding	OTTHUMT00000044902.2	23	0.00	0	T	NM_030911		49830003	49830003	+1	no_errors	ENST00000251108	ensembl	human	known	69_37n	missense	22	50.00	22	SNP	0.846	C
CDHR2	54825	genome.wustl.edu	37	5	176017599	176017599	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr5:176017599A>T	ENST00000510636.1	+	28	3724	c.3450A>T	c.(3448-3450)aaA>aaT	p.K1150N	CDHR2_ENST00000261944.5_Missense_Mutation_p.K1150N|CDHR2_ENST00000506348.1_Missense_Mutation_p.K1150N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1150					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCTGTCGAAACAGCTCATCA	0.587																																						dbGAP											0													205.0	169.0	181.0					5																	176017599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3450A>T	5.37:g.176017599A>T	ENSP00000424565:p.Lys1150Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1150N	ENST00000510636.1	37	c.3450	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	a	2.492	-0.317190	0.05386	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.55760	0.5;0.5;0.5	4.61	0.005	0.14060	.	.	.	.	.	T	0.30386	0.0763	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18777	-1.0326	9	0.22109	T	0.4	-2.1288	0.9959	0.01466	0.2868:0.146:0.3857:0.1815	.	1150	Q9BYE9	CDHR2_HUMAN	N	1150	ENSP00000424565:K1150N;ENSP00000261944:K1150N;ENSP00000421078:K1150N	ENSP00000261944:K1150N	K	+	3	2	CDHR2	175950205	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.037000	0.13840	-0.783000	0.04534	-0.444000	0.05651	AAA	CDHR2	-	NULL	ENSG00000074276		0.587	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	190	0.52	1	A	NM_017675		176017599	176017599	+1	no_errors	ENST00000261944	ensembl	human	known	69_37n	missense	12	76.92	40	SNP	0.000	T
CIB4	130106	genome.wustl.edu	37	2	26806664	26806664	+	Missense_Mutation	SNP	G	G	T	rs199690949		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr2:26806664G>T	ENST00000288861.4	-	5	484	c.431C>A	c.(430-432)aCg>aAg	p.T144K	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	144	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACGTGGTTCGTGAGGTCCAT	0.582																																						dbGAP											0													114.0	99.0	104.0					2																	26806664		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.431C>A	2.37:g.26806664G>T	ENSP00000288861:p.Thr144Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU18	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T144K	ENST00000288861.4	37	c.431	CCDS33160.1	2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169087	0.38315	.	.	ENSG00000157884	ENST00000288861;ENST00000403670;ENST00000405346	T	0.71222	-0.55	5.53	-0.521	0.11931	EF-hand-like domain (1);	0.605110	0.15469	N	0.260685	T	0.64897	0.2640	M	0.66439	2.03	0.09310	N	1	B	0.31705	0.336	B	0.35931	0.214	T	0.59284	-0.7483	10	0.66056	D	0.02	.	5.9257	0.19110	0.3497:0.1273:0.523:0.0	.	144	A0PJX0	CIB4_HUMAN	K	144;99;146	ENSP00000288861:T144K	ENSP00000288861:T144K	T	-	2	0	CIB4	26660168	0.100000	0.21855	0.006000	0.13384	0.139000	0.21198	0.237000	0.17985	-0.136000	0.11475	-0.137000	0.14449	ACG	CIB4	-	smart_EF_hand_Ca-bd	ENSG00000157884		0.582	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	37	0.00	0	G			26806664	26806664	-1	no_errors	ENST00000288861	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	0.003	T
CMYA5	202333	genome.wustl.edu	37	5	79041083	79041083	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr5:79041083G>T	ENST00000446378.2	+	4	10804	c.10773G>T	c.(10771-10773)caG>caT	p.Q3591H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3591	B-box coiled-coil; BBC.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAGAACAGAATGAGGAAA	0.373																																						dbGAP											0													56.0	56.0	56.0					5																	79041083		1865	4104	5969	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10773G>T	5.37:g.79041083G>T	ENSP00000394770:p.Gln3591His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q3591H	ENST00000446378.2	37	c.10773	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224803	0.39300	.	.	ENSG00000164309	ENST00000446378	T	0.40476	1.03	5.58	4.72	0.59763	.	0.142087	0.32802	N	0.005639	T	0.52008	0.1708	L	0.35854	1.095	0.44000	D	0.996708	D	0.89917	1.0	D	0.71184	0.972	T	0.53927	-0.8369	10	0.62326	D	0.03	.	11.9364	0.52876	0.1404:0.0:0.8596:0.0	.	3591	Q8N3K9	CMYA5_HUMAN	H	3591	ENSP00000394770:Q3591H	ENSP00000394770:Q3591H	Q	+	3	2	CMYA5	79076839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.244000	0.32778	1.487000	0.48415	0.655000	0.94253	CAG	CMYA5	-	NULL	ENSG00000164309		0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	218	0.00	0	G	NM_153610		79041083	79041083	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	0	100.00	19	SNP	1.000	T
CPXM2	119587	genome.wustl.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3Q2	In_Frame_Del	DEL	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.L392in_frame_del	ENST00000241305.3	37	c.1176_1174	CCDS7637.1	10																																																																																			CPXM2	-	pfam_Peptidase_M14	ENSG00000121898		0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	36	0.00	0	CAG	NM_198148		125528165	125528167	-1	no_errors	ENST00000241305	ensembl	human	known	69_37n	in_frame_del	7	22.22	2	DEL	1.000:1.000:1.000	-
CROCCP2	84809	genome.wustl.edu	37	1	16945008	16945008	+	lincRNA	SNP	G	G	A	rs202076170	byFrequency	TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr1:16945008G>A	ENST00000412962.1	-	0	2511				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											catctgccacgatacatgtgc	0.348													.|||	42	0.00838658	0.0008	0.0101	5008	,	,		74164	0.0		0.0239	False		,,,				2504	0.0102					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945008G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.348	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	33	0.00	0	G	NR_026752.1		16945008	16945008	-1	no_errors	ENST00000412962	ensembl	human	known	69_37n	rna	6	45.45	5	SNP	0.000	A
DLG2	1740	genome.wustl.edu	37	11	83344318	83344319	+	Missense_Mutation	DNP	TC	TC	CT	rs143978460		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:83344318_83344319TC>CT	ENST00000532653.1	-	14	1862_1863	c.1560_1561GA>AG	c.(1558-1563)atGAac>atAGac	p.520_521MN>ID	DLG2_ENST00000524982.1_Missense_Mutation_p.520_521MN>ID|DLG2_ENST00000398304.1_Missense_Mutation_p.2_3MN>ID|DLG2_ENST00000376106.3_Missense_Mutation_p.2_3MN>ID|DLG2_ENST00000280241.8_Missense_Mutation_p.559_560MN>ID|DLG2_ENST00000376104.2_Missense_Mutation_p.625_626MN>ID|DLG2_ENST00000543673.1_Missense_Mutation_p.625_626MN>ID|DLG2_ENST00000418306.2_Missense_Mutation_p.417_418MN>ID|DLG2_ENST00000426717.2_Missense_Mutation_p.2_3MN>ID|DLG2_ENST00000530800.1_Missense_Mutation_p.29_30MN>ID|DLG2_ENST00000537455.1_Missense_Mutation_p.274_275MN>ID|DLG2_ENST00000531015.1_Missense_Mutation_p.487_488MN>ID|DLG2_ENST00000398309.2_Missense_Mutation_p.520_521MN>ID|DLG2_ENST00000404783.3_Missense_Mutation_p.2_3MN>ID|DLG2_ENST00000330014.6_Missense_Mutation_p.459_460MN>ID			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	244	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATGCTGTGGTTCATCATCTGCT	0.485																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1560_1561delinsCT	11.37:g.83344318_83344319delinsCT	ENSP00000435849:p.M520_N521delinsID	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.N626D|p.M625I	ENST00000532653.1	37	c.1876|c.1875		11																																																																																			DLG2	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.485	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	345|347	0.57	2	T|C	NM_001364		83344318|83344319	83344318|83344319	-1	no_errors	ENST00000376104	ensembl	human	known	69_37n	missense	14|13	73.58|73.08	39|38	SNP	1.000	C|T
DNM1	1759	genome.wustl.edu	37	9	131010957	131010957	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr9:131010957C>A	ENST00000372923.3	+	19	2093	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	DNM1_ENST00000393594.3_Missense_Mutation_p.D667E|DNM1_ENST00000341179.7_Missense_Mutation_p.D667E|DNM1_ENST00000475805.1_Missense_Mutation_p.D667E|DNM1_ENST00000486160.1_Missense_Mutation_p.D667E	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	667	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						ATCTTGTGGACTCATACATGG	0.557																																					GBM(113;146 1575 2722 28670 29921)	dbGAP											0													200.0	162.0	175.0					9																	131010957		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2001C>A	9.37:g.131010957C>A	ENSP00000362014:p.Asp667Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.D667E	ENST00000372923.3	37	c.2001	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910628	0.33721	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.67	1.6	0.23607	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.64170	1.965	0.58432	D	0.999994	D;D;D	0.69078	0.992;0.99;0.997	D;D;D	0.79108	0.989;0.98;0.992	T	0.53795	-0.8388	10	0.46703	T	0.11	-12.9997	3.7645	0.08617	0.1829:0.5108:0.0:0.3062	.	667;667;606	Q05193;Q05193-3;B4DHH5	DYN1_HUMAN;.;.	E	667;667;667;667;667;212	ENSP00000419225:D667E;ENSP00000345680:D667E;ENSP00000362014:D667E;ENSP00000377219:D667E;ENSP00000420045:D667E	ENSP00000345680:D667E	D	+	3	2	DNM1	130050778	1.000000	0.71417	0.959000	0.39883	0.016000	0.09150	1.619000	0.36965	0.611000	0.30052	-0.127000	0.14921	GAC	DNM1	-	pfam_GED,smart_GED	ENSG00000106976		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	180	0.00	0	C	NM_004408		131010957	131010957	+1	no_errors	ENST00000372923	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	1.000	A
DSCAM	1826	genome.wustl.edu	37	21	41725667	41725667	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr21:41725667G>T	ENST00000400454.1	-	5	1136	c.659C>A	c.(658-660)cCa>cAa	p.P220Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	220					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGTTCGCTGGGTCTGTAGA	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													17.0	16.0	16.0					21																	41725667		1875	4114	5989	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.659C>A	21.37:g.41725667G>T	ENSP00000383303:p.Pro220Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P220Q	ENST00000400454.1	37	c.659	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575785	0.86645	.	.	ENSG00000171587	ENST00000400454	T	0.80214	-1.35	5.07	5.07	0.68467	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	M	0.85197	2.74	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.91871	0.5507	10	0.62326	D	0.03	.	18.7926	0.91980	0.0:0.0:1.0:0.0	.	220	O60469	DSCAM_HUMAN	Q	220	ENSP00000383303:P220Q	ENSP00000383303:P220Q	P	-	2	0	DSCAM	40647537	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.302000	0.96175	2.513000	0.84729	0.650000	0.86243	CCA	DSCAM	-	NULL	ENSG00000171587		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	42	0.00	0	G	NM_001389		41725667	41725667	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56485202	56485202	+	Silent	SNP	A	A	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:56485202A>C	ENST00000370765.6	-	23	3737	c.3630T>G	c.(3628-3630)gcT>gcG	p.A1210A	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCTCTTTCAGCGGCTTCCT	0.502																																						dbGAP											0													66.0	69.0	68.0					6																	56485202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3630T>G	6.37:g.56485202A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.A1210	ENST00000370765.6	37	c.3630	CCDS4959.1	6																																																																																			DST	-	NULL	ENSG00000151914		0.502	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	175	0.00	0	A	NM_001723		56485202	56485202	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	silent	37	44.78	30	SNP	0.000	C
EFCAB3	146779	genome.wustl.edu	37	17	60493497	60493497	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr17:60493497T>C	ENST00000305286.3	+	10	1202	c.1124T>C	c.(1123-1125)tTt>tCt	p.F375S	EFCAB3_ENST00000450662.2_Missense_Mutation_p.F427S	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	375							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TATGACACCTTTTCTACTTAT	0.403																																						dbGAP											0													100.0	102.0	101.0					17																	60493497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1124T>C	17.37:g.60493497T>C	ENSP00000302649:p.Phe375Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQM8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.F427S	ENST00000305286.3	37	c.1280	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862017	0.71949	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.75938	-0.98;-0.88	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000003	D	0.84070	0.5391	M	0.69823	2.125	0.40360	D	0.979237	D	0.71674	0.998	D	0.80764	0.994	D	0.86316	0.1689	10	0.87932	D	0	.	12.3593	0.55194	0.0:0.0:0.0:1.0	.	375	Q8N7B9	EFCB3_HUMAN	S	427;375	ENSP00000403932:F427S;ENSP00000302649:F375S	ENSP00000302649:F375S	F	+	2	0	EFCAB3	57847229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.031000	0.57267	2.203000	0.70933	0.454000	0.30748	TTT	EFCAB3	-	NULL	ENSG00000172421		0.403	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	138	0.00	0	T	NM_173503		60493497	60493497	+1	no_errors	ENST00000450662	ensembl	human	known	69_37n	missense	2	93.94	31	SNP	1.000	C
FCGBP	8857	genome.wustl.edu	37	19	40430361	40430361	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr19:40430361C>T	ENST00000221347.6	-	3	1589	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	528	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGAGGCCCACGTAGGAGACG	0.652																																						dbGAP											0													48.0	41.0	43.0					19																	40430361		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1582G>A	19.37:g.40430361C>T	ENSP00000221347:p.Val528Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.V528M	ENST00000221347.6	37	c.1582	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394129	0.83011	.	.	ENSG00000090920	ENST00000221347	T	0.60299	0.2	5.53	5.53	0.82687	von Willebrand factor, type D domain (3);	0.000000	0.52532	U	0.000075	T	0.76772	0.4034	M	0.84846	2.72	0.34732	D	0.729822	D	0.89917	1.0	D	0.97110	1.0	D	0.83560	0.0106	10	0.45353	T	0.12	.	12.3602	0.55199	0.0:0.9191:0.0:0.0809	.	528	Q9Y6R7	FCGBP_HUMAN	M	528	ENSP00000221347:V528M	ENSP00000221347:V528M	V	-	1	0	FCGBP	45122201	0.315000	0.24571	1.000000	0.80357	0.950000	0.60333	1.239000	0.32719	2.608000	0.88229	0.561000	0.74099	GTG	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	70	0.00	0	C	NM_003890		40430361	40430361	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	0.999	T
FN3KRP	79672	genome.wustl.edu	37	17	80684819	80684819	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr17:80684819delC	ENST00000269373.6	+	6	775	c.702delC	c.(700-702)gacfs	p.D234fs	FN3KRP_ENST00000535965.1_Frame_Shift_Del_p.D184fs|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	234							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TGATTTTTGACCCAGCTTCTT	0.552																																						dbGAP											0													62.0	65.0	64.0					17																	80684819		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.702delC	17.37:g.80684819delC	ENSP00000269373:p.Asp234fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969F4|Q9H0U7	Frame_Shift_Del	DEL	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.P235fs	ENST00000269373.6	37	c.702	CCDS11817.1	17																																																																																			FN3KRP	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000141560		0.552	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3KRP	HGNC	protein_coding	OTTHUMT00000439219.1	71	0.00	0	C	NM_024619		80684819	80684819	+1	no_errors	ENST00000269373	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.802	-
FRG1	2483	genome.wustl.edu	37	4	190874255	190874255	+	Missense_Mutation	SNP	A	A	T	rs17425201		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr4:190874255A>T	ENST00000226798.4	+	4	514	c.292A>T	c.(292-294)Acg>Tcg	p.T98S	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	98					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T98S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAGCAGTTTACGGCTGTCAA	0.269																																						dbGAP											1	Substitution - Missense(1)	NS(1)																																								-	-	-	SO:0001583	missense	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.292A>T	4.37:g.190874255A>T	ENSP00000226798:p.Thr98Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K775	Missense_Mutation	SNP	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T98S	ENST00000226798.4	37	c.292	CCDS34121.1	4	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815686	0.50527	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.52057	1.8;0.68	3.71	3.71	0.42584	Actin cross-linking (1);	0.093692	0.64402	D	0.000001	T	0.23926	0.0579	N	0.02539	-0.55	0.58432	D	0.999999	B	0.20261	0.043	B	0.27796	0.083	T	0.08207	-1.0733	10	0.39692	T	0.17	-1.9466	11.0497	0.47880	1.0:0.0:0.0:0.0	rs17425201	98	Q14331	FRG1_HUMAN	S	98;35	ENSP00000226798:T98S;ENSP00000435943:T35S	ENSP00000226798:T98S	T	+	1	0	FRG1	191111249	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.637000	0.74304	1.645000	0.50612	0.514000	0.50259	ACG	FRG1	-	pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000109536		0.269	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	142	0.00	0	A	NM_004477		190874255	190874255	+1	no_errors	ENST00000226798	ensembl	human	known	69_37n	missense	88	10.20	10	SNP	1.000	T
FUS	2521	genome.wustl.edu	37	16	31195247	31195247	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr16:31195247T>A	ENST00000254108.7	+	4	364	c.259T>A	c.(259-261)Tcc>Acc	p.S87T	FUS_ENST00000568685.1_Missense_Mutation_p.S87T|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000380244.3_Missense_Mutation_p.S86T	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	87	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAGCCAGAGCTCCCAATCGTC	0.577			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	dbGAP		Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0													92.0	93.0	92.0					16																	31195247		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.259T>A	16.37:g.31195247T>A	ENSP00000254108:p.Ser87Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.S87T	ENST00000254108.7	37	c.259	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877133	0.51801	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.81908	-1.55	6.17	5.09	0.68999	.	0.204800	0.42821	D	0.000653	T	0.77294	0.4109	L	0.46741	1.465	0.30514	N	0.76911	P;P;P;P	0.39665	0.546;0.675;0.546;0.682	B;B;B;B	0.37888	0.133;0.26;0.133;0.202	T	0.75825	-0.3181	10	0.40728	T	0.16	-3.1268	11.2456	0.48996	0.0:0.0716:0.0:0.9284	.	87;86;87;87	Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;FUS_HUMAN;.	T	87	ENSP00000254108:S87T	ENSP00000254108:S87T	S	+	1	0	FUS	31102748	0.991000	0.36638	1.000000	0.80357	0.846000	0.48090	0.890000	0.28295	1.165000	0.42670	0.533000	0.62120	TCC	FUS	-	NULL	ENSG00000089280		0.577	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	128	0.00	0	T	NM_004960		31195247	31195247	+1	no_errors	ENST00000254108	ensembl	human	known	69_37n	missense	17	35.71	10	SNP	1.000	A
GBAP1	2630	genome.wustl.edu	37	1	155187164	155187164	+	RNA	SNP	C	C	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr1:155187164C>G	ENST00000486869.1	-	0	349					NR_002188.2				glucosidase, beta, acid pseudogene 1																		ATATCCGATTCCTACAGAAAA	0.483																																						dbGAP											0																																										-	-	-			0			J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155187164C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000486869.1	37	NULL		1	.	.	.	.	.	.	.	.	.	.	.	2.399	-0.338095	0.05278	.	.	ENSG00000160766	ENST00000368374;ENST00000313929	.	.	.	3.6	3.6	0.41247	.	0.000000	0.64402	U	0.000013	T	0.66396	0.2785	.	.	.	0.48632	D	0.999681	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71938	-0.4441	7	0.87932	D	0	.	10.8738	0.46899	0.0:1.0:0.0:0.0	.	30;69	C4AM82;B4DHT6	.;.	A	30	.	ENSP00000316400:G30A	G	-	2	0	GBAP1	153453788	1.000000	0.71417	0.958000	0.39756	0.014000	0.08584	6.847000	0.75404	1.970000	0.57323	0.563000	0.77884	GGA	GBAP1	-	-	ENSG00000160766		0.483	GBAP1-002	KNOWN	basic	processed_transcript	GBAP1	HGNC	pseudogene	OTTHUMT00000087219.2	245	0.00	0	C	NR_002188.2		155187164	155187164	-1	no_errors	ENST00000368374	ensembl	human	known	69_37n	rna	53	33.75	27	SNP	1.000	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23685826	23685828	+	In_Frame_Del	DEL	TCT	TCT	-	rs372813065		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr15:23685826_23685828delTCT	ENST00000567107.1	-	8	1846_1848	c.1794_1796delAGA	c.(1792-1797)gaagat>gat	p.E598del	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						tgctgccacatcttcttctgctc	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1794_1796delAGA	15.37:g.23685832_23685834delTCT	ENSP00000454407:p.Glu598del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	In_Frame_Del	DEL	NULL	p.E598in_frame_del	ENST00000567107.1	37	c.1796_1794		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.581	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	16	0.00	0	TCT	NM_182561		23685826	23685828	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	in_frame_del	23	11.54	3	DEL	0.000:0.000:0.000	-
GPC6	10082	genome.wustl.edu	37	13	94197607	94197607	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr13:94197607A>T	ENST00000377047.4	+	2	867	c.252A>T	c.(250-252)gaA>gaT	p.E84D		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	84					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCGAATTTGAAAACCTTGTGG	0.408																																						dbGAP											0													160.0	149.0	153.0					13																	94197607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.252A>T	13.37:g.94197607A>T	ENSP00000366246:p.Glu84Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.E84D	ENST00000377047.4	37	c.252	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241629	0.79912	.	.	ENSG00000183098	ENST00000377047	T	0.55413	0.52	5.2	2.8	0.32819	.	0.070917	0.53938	D	0.000043	T	0.62417	0.2426	M	0.81341	2.54	0.29012	N	0.886801	P;P	0.38729	0.644;0.572	P;P	0.49192	0.602;0.596	T	0.60495	-0.7252	10	0.52906	T	0.07	.	9.0566	0.36410	0.8502:0.0:0.1498:0.0	.	84;84	B4E2M1;Q9Y625	.;GPC6_HUMAN	D	84	ENSP00000366246:E84D	ENSP00000366246:E84D	E	+	3	2	GPC6	92995608	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	0.584000	0.23864	0.936000	0.37367	0.524000	0.50904	GAA	GPC6	-	pfam_Glypican	ENSG00000183098		0.408	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	124	0.00	0	A	NM_005708		94197607	94197607	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	50	38.27	31	SNP	1.000	T
GPR110	266977	genome.wustl.edu	37	6	46982477	46982477	+	Silent	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:46982477G>A	ENST00000371253.2	-	9	1082	c.867C>T	c.(865-867)tcC>tcT	p.S289S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.S92S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	289					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACCCAGAGGACTCACACT	0.498																																						dbGAP											0													113.0	92.0	99.0					6																	46982477		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.867C>T	6.37:g.46982477G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.S289	ENST00000371253.2	37	c.867	CCDS34471.1	6																																																																																			GPR110	-	NULL	ENSG00000153292		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	119	0.00	0	G	NM_153840		46982477	46982477	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	silent	13	45.83	11	SNP	0.086	A
GUCY1B3	2983	genome.wustl.edu	37	4	156723562	156723562	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr4:156723562A>G	ENST00000264424.8	+	10	1326	c.1244A>G	c.(1243-1245)aAa>aGa	p.K415R	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.K395R|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.K347R|GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.K347R|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.K437R|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.K390R	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	415					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTGCCTGCCAAAAGATATGAC	0.493																																						dbGAP											0													117.0	114.0	115.0					4																	156723562		2053	4213	6266	-	-	-	SO:0001583	missense	0			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1244A>G	4.37:g.156723562A>G	ENSP00000264424:p.Lys415Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K415R	ENST00000264424.8	37	c.1244	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306569	0.40795	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000513437	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.9	5.9	0.94986	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	N	0.25332	0.735	0.58432	D	0.999997	B;B;B;B	0.13594	0.007;0.007;0.008;0.001	B;B;B;B	0.19946	0.012;0.027;0.022;0.012	T	0.65944	-0.6045	10	0.27082	T	0.32	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	395;437;390;415	B7Z426;E9PCN2;D6RC99;Q02153	.;.;.;GCYB1_HUMAN	R	347;437;395;390;415;347	ENSP00000427226:K347R;ENSP00000426786:K437R;ENSP00000426319:K395R;ENSP00000422313:K390R;ENSP00000264424:K415R;ENSP00000425065:K347R	ENSP00000264424:K415R	K	+	2	0	GUCY1B3	156943012	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.382000	0.73167	2.251000	0.74343	0.528000	0.53228	AAA	GUCY1B3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000061918		0.493	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	99	0.00	0	A			156723562	156723562	+1	no_errors	ENST00000264424	ensembl	human	known	69_37n	missense	27	55.74	34	SNP	1.000	G
HLA-DRB5	3127	genome.wustl.edu	37	6	32489813	32489813	+	Missense_Mutation	SNP	G	G	C	rs79606458	byFrequency	TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:32489813G>C	ENST00000374975.3	-	2	301	c.239C>G	c.(238-240)aCg>aGg	p.T80R		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCCCAGCTCCGTCACCGCCCG	0.627																																						dbGAP											0													40.0	36.0	38.0					6																	32489813		2164	4222	6386	-	-	-	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.239C>G	6.37:g.32489813G>C	ENSP00000364114:p.Thr80Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.T80R	ENST00000374975.3	37	c.239	CCDS4751.1	6	364	0.16666666666666666	117	0.23780487804878048	54	0.14917127071823205	79	0.1381118881118881	114	0.1503957783641161	.	16.99	3.274195	0.59649	.	.	ENSG00000198502	ENST00000374975	T	0.00402	7.56	4.72	3.83	0.44106	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.544494	0.19749	N	0.106959	T	0.01765	0.0056	H	0.99944	5.01	0.54753	P	1.4999999999987246E-5	D;D	0.89917	0.989;1.0	D;D	0.91635	0.937;0.999	T	0.02257	-1.1187	9	0.72032	D	0.01	.	12.6105	0.56547	0.0:0.1687:0.8313:0.0	rs41543012	7;80	Q29973;Q30154	.;DRB5_HUMAN	R	80	ENSP00000364114:T80R	ENSP00000364114:T80R	T	-	2	0	HLA-DRB5	32597791	0.241000	0.23857	0.004000	0.12327	0.936000	0.57629	1.145000	0.31577	0.958000	0.37956	0.430000	0.28490	ACG	HLA-DRB5	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000198502		0.627	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	35	0.00	0	G	NM_002125		32489813	32489813	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.050	C
HLA-DRB6	3128	genome.wustl.edu	37	6	32522736	32522736	+	RNA	SNP	A	A	C	rs36214032		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:32522736A>C	ENST00000411500.1	-	0	470					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATACACAGTCACCTTAGGATG	0.493																																						dbGAP											0																																										-	-	-			0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522736A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-	ENSG00000229391		0.493	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	13	0.00	0	A	NR_001298		32522736	32522736	-1	no_errors	ENST00000411500	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.994	C
HCRTR2	3062	genome.wustl.edu	37	6	55145230	55145230	+	Missense_Mutation	SNP	A	A	T	rs368871388		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:55145230A>T	ENST00000370862.3	+	6	1429	c.1093A>T	c.(1093-1095)Aat>Tat	p.N365Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	365					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATTATTTATAATTTTCTCAG	0.388																																						dbGAP											0													134.0	133.0	133.0					6																	55145230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1093A>T	6.37:g.55145230A>T	ENSP00000359899:p.Asn365Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTM0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.N365Y	ENST00000370862.3	37	c.1093	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299743	0.81136	.	.	ENSG00000137252	ENST00000370862	T	0.35973	1.28	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.28054	0.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27673	-1.0067	10	0.42905	T	0.14	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	365	O43614	OX2R_HUMAN	Y	365	ENSP00000359899:N365Y	ENSP00000359899:N365Y	N	+	1	0	HCRTR2	55253189	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.850000	0.92190	2.148000	0.66965	0.477000	0.44152	AAT	HCRTR2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000137252		0.388	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	201	0.00	0	A			55145230	55145230	+1	no_errors	ENST00000370862	ensembl	human	known	69_37n	missense	62	48.33	58	SNP	1.000	T
LILRA6	79168	genome.wustl.edu	37	19	54745621	54745621	+	Silent	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr19:54745621G>A	ENST00000396365.2	-	4	528	c.489C>T	c.(487-489)ctC>ctT	p.L163L	LILRA6_ENST00000440558.2_Silent_p.L163L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Silent_p.L163L|LILRA6_ENST00000245621.5_Silent_p.L163L|LILRA6_ENST00000419410.2_Silent_p.L163L|LILRA6_ENST00000270464.5_Silent_p.L163L	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	163					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCCGGGGGAGCTGGTGTT	0.612																																						dbGAP											0													12.0	20.0	17.0					19																	54745621		1990	4214	6204	-	-	-	SO:0001819	synonymous_variant	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.489C>T	19.37:g.54745621G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L163	ENST00000396365.2	37	c.489	CCDS42610.1	19																																																																																			LILRA6	-	NULL	ENSG00000244482		0.612	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	43	0.00	0	G	NM_024318		54745621	54745621	-1	no_errors	ENST00000270464	ensembl	human	known	69_37n	silent	25	44.44	20	SNP	0.000	A
MALSU1	115416	genome.wustl.edu	37	7	23349135	23349135	+	Silent	SNP	G	G	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr7:23349135G>C	ENST00000466681.1	+	4	831	c.678G>C	c.(676-678)gtG>gtC	p.V226V		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	226					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											CTTCATCTGTGACTCCAGTGG	0.373																																						dbGAP											0													76.0	71.0	73.0					7																	23349135		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.678G>C	7.37:g.23349135G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D154	Silent	SNP	pfam_Oligomer_dom,tigrfam_Ribosome-assoc_Iojap-like	p.V226	ENST00000466681.1	37	c.678	CCDS5381.1	7																																																																																			MALSU1	-	NULL	ENSG00000156928		0.373	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MALSU1	HGNC	protein_coding	OTTHUMT00000250241.2	154	0.00	0	G	NM_138446		23349135	23349135	+1	no_errors	ENST00000466681	ensembl	human	known	69_37n	silent	19	45.71	16	SNP	0.000	C
MAP1A	4130	genome.wustl.edu	37	15	43815340	43815340	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr15:43815340A>G	ENST00000300231.5	+	4	2119	c.1669A>G	c.(1669-1671)Aag>Gag	p.K557E	MAP1A_ENST00000399453.1_Missense_Mutation_p.K557E|MAP1A_ENST00000382031.1_Missense_Mutation_p.K795E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	557					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACTAGGAGATAAGCCATTCCC	0.542																																						dbGAP											0													75.0	78.0	77.0					15																	43815340		2068	4213	6281	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1669A>G	15.37:g.43815340A>G	ENSP00000300231:p.Lys557Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.K557E	ENST00000300231.5	37	c.1669	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784740	0.16189	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.52754	0.65;0.65;0.65	5.39	5.39	0.77823	.	.	.	.	.	T	0.47948	0.1473	M	0.70595	2.14	0.48571	D	0.999676	B	0.19583	0.037	B	0.18871	0.023	T	0.41805	-0.9488	9	0.25751	T	0.34	-15.3563	14.7527	0.69540	1.0:0.0:0.0:0.0	.	557	P78559	MAP1A_HUMAN	E	795;557;557;557	ENSP00000371462:K795E;ENSP00000382380:K557E;ENSP00000300231:K557E	ENSP00000300231:K557E	K	+	1	0	MAP1A	41602632	0.000000	0.05858	0.986000	0.45419	0.006000	0.05464	0.642000	0.24735	2.263000	0.75096	0.533000	0.62120	AAG	MAP1A	-	NULL	ENSG00000166963		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	80	0.00	0	A	NM_002373		43815340	43815340	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	0.969	G
MSRA	4482	genome.wustl.edu	37	8	10285663	10285663	+	Silent	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr8:10285663T>C	ENST00000317173.4	+	6	798	c.549T>C	c.(547-549)ctT>ctC	p.L183L	MSRA_ENST00000382490.5_Silent_p.L140L|MSRA_ENST00000528246.1_Silent_p.L117L|MSRA_ENST00000441698.2_Silent_p.L143L	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	183					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CACAGGTTCTTTCAGAGCACG	0.597																																					NSCLC(88;1378 1469 30580 49103 52286)	dbGAP											0													53.0	49.0	50.0					8																	10285663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.549T>C	8.37:g.10285663T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAS8|Q52TC4|Q549N4|Q66MI7	Silent	SNP	pfam_Peptide_Met_Sox_Rdtase_MsrA,superfamily_Peptide_Met_Sox_Rdtase_MsrA,tigrfam_Peptide_Met_Sox_Rdtase_MsrA	p.L183	ENST00000317173.4	37	c.549	CCDS5975.1	8																																																																																			MSRA	-	pfam_Peptide_Met_Sox_Rdtase_MsrA,superfamily_Peptide_Met_Sox_Rdtase_MsrA,tigrfam_Peptide_Met_Sox_Rdtase_MsrA	ENSG00000175806		0.597	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRA	HGNC	protein_coding	OTTHUMT00000207005.1	42	0.00	0	T	NM_012331		10285663	10285663	+1	no_errors	ENST00000317173	ensembl	human	known	69_37n	silent	8	46.67	7	SNP	0.690	C
MYH9	4627	genome.wustl.edu	37	22	36680272	36680272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr22:36680272G>A	ENST00000216181.5	-	40	5862	c.5632C>T	c.(5632-5634)Cag>Tag	p.Q1878*	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1878					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTCCAGCTGCCGCTTGAGC	0.687			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													22.0	26.0	25.0					22																	36680272		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5632C>T	22.37:g.36680272G>A	ENSP00000216181:p.Gln1878*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Q1878*	ENST00000216181.5	37	c.5632	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	47	13.716531	0.99759	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2341	0.89944	0.0:0.0:1.0:0.0	.	.	.	.	X	1300;480;1878	.	ENSP00000216181:Q1878X	Q	-	1	0	MYH9	35010218	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.690000	0.98676	2.299000	0.77371	0.305000	0.20034	CAG	MYH9	-	pfam_Myosin_tail	ENSG00000100345		0.687	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	32	0.00	0	G	NM_002473		36680272	36680272	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	nonsense	21	27.59	8	SNP	1.000	A
NEUROG3	50674	genome.wustl.edu	37	10	71332562	71332562	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr10:71332562G>T	ENST00000242462.4	-	2	267	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	80					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CTCCGTCGCTGCTTGCTCAGT	0.687																																						dbGAP											0													62.0	37.0	46.0					10																	71332562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.238C>A	10.37:g.71332562G>T	ENSP00000242462:p.Gln80Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.Q80K	ENST00000242462.4	37	c.238	CCDS31212.1	10	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792639	0.31685	.	.	ENSG00000122859	ENST00000242462	D	0.94417	-3.42	4.7	3.8	0.43715	.	0.000000	0.38837	N	0.001543	D	0.86623	0.5977	N	0.19112	0.55	0.37074	D	0.898672	B	0.06786	0.001	B	0.08055	0.003	T	0.79890	-0.1612	10	0.06236	T	0.91	-24.3725	11.5559	0.50748	0.0879:0.0:0.9121:0.0	.	80	Q9Y4Z2	NGN3_HUMAN	K	80	ENSP00000242462:Q80K	ENSP00000242462:Q80K	Q	-	1	0	NEUROG3	71002568	0.973000	0.33851	1.000000	0.80357	0.736000	0.42039	0.973000	0.29422	1.186000	0.42985	0.591000	0.81541	CAG	NEUROG3	-	NULL	ENSG00000122859		0.687	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	33	0.00	0	G	NM_020999		71332562	71332562	-1	no_errors	ENST00000242462	ensembl	human	known	69_37n	missense	1	85.71	6	SNP	0.996	T
NF1	4763	genome.wustl.edu	37	17	29527502	29527503	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr17:29527502_29527503delAG	ENST00000358273.4	+	9	1334_1335	c.951_952delAG	c.(949-954)acagaafs	p.E318fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.E318fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.E318fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	318					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCAGCTGACAGAAAGTGCTGC	0.396			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.951_952delAG	17.37:g.29527502_29527503delAG	ENSP00000351015:p.Glu318fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E318fs	ENST00000358273.4	37	c.951_952	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.396	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	104	0.95	1	AG	NM_000267		29527502	29527503	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	frame_shift_del	12	71.43	30	DEL	0.909:1.000	-
NLRP10	338322	genome.wustl.edu	37	11	7982328	7982328	+	Silent	SNP	T	T	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:7982328T>A	ENST00000328600.2	-	2	992	c.831A>T	c.(829-831)ctA>ctT	p.L277L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	277	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTCTCCTAATTAGAAGGTGCA	0.532																																						dbGAP											0													95.0	96.0	95.0					11																	7982328		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.831A>T	11.37:g.7982328T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3C4|Q6JGT0	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L277	ENST00000328600.2	37	c.831	CCDS7784.1	11																																																																																			NLRP10	-	pfscan_NACHT_NTPase	ENSG00000182261		0.532	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1	90	0.00	0	T	NM_176821		7982328	7982328	-1	no_errors	ENST00000328600	ensembl	human	known	69_37n	silent	22	46.34	19	SNP	0.000	A
NLRP11	204801	genome.wustl.edu	37	19	56320356	56320356	+	Silent	SNP	C	C	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr19:56320356C>T	ENST00000589093.1	-	3	1713	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	NLRP11_ENST00000592953.1_Silent_p.T441T|NLRP11_ENST00000589824.2_Silent_p.T540T|NLRP11_ENST00000443188.1_Silent_p.T540T|NLRP11_ENST00000360133.3_Silent_p.T540T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCATATGGTGCGTCAACTTTT	0.443																																						dbGAP											0													163.0	151.0	155.0					19																	56320356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1620G>A	19.37:g.56320356C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T540	ENST00000589093.1	37	c.1620	CCDS12935.1	19																																																																																			NLRP11	-	NULL	ENSG00000179873		0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	122	0.81	1	C	NM_145007		56320356	56320356	-1	no_errors	ENST00000443188	ensembl	human	known	69_37n	silent	32	25.58	11	SNP	0.000	T
NTRK2	4915	genome.wustl.edu	37	9	87366922	87366922	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr9:87366922G>A	ENST00000323115.4	+	11	1671	c.1318G>A	c.(1318-1320)Gcg>Acg	p.A440T	NTRK2_ENST00000277120.3_Missense_Mutation_p.A440T|NTRK2_ENST00000376208.1_Missense_Mutation_p.A440T|NTRK2_ENST00000395866.2_Missense_Mutation_p.A284T|NTRK2_ENST00000395882.1_Missense_Mutation_p.A440T|NTRK2_ENST00000376213.1_Missense_Mutation_p.A440T|NTRK2_ENST00000304053.6_Missense_Mutation_p.A440T|NTRK2_ENST00000376214.1_Missense_Mutation_p.A440T|NTRK2_ENST00000359847.3_Missense_Mutation_p.A440T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	440					activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGTGGTGATTGCGTCTGTGGT	0.418										TSP Lung(25;0.17)																												dbGAP											0													374.0	293.0	321.0					9																	87366922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1318G>A	9.37:g.87366922G>A	ENSP00000314586:p.Ala440Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.A440T	ENST00000323115.4	37	c.1318	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682397	0.88542	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.75260	-0.92;-0.9;-0.74;-0.7;-0.76;-0.92;-0.9;-0.74;-0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.84585	2.705	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.997;0.997;0.998;0.961;0.983;0.998;0.999	D	0.86288	0.1672	10	0.39692	T	0.17	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	284;440;440;440;440;440;486;440	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	T	440;440;440;440;440;440;440;440;284	ENSP00000365387:A440T;ENSP00000365386:A440T;ENSP00000379221:A440T;ENSP00000365381:A440T;ENSP00000306167:A440T;ENSP00000277120:A440T;ENSP00000314586:A440T;ENSP00000352906:A440T;ENSP00000379207:A284T	ENSP00000277120:A440T	A	+	1	0	NTRK2	86556742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.974000	0.70465	2.941000	0.99782	0.655000	0.94253	GCG	NTRK2	-	NULL	ENSG00000148053		0.418	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	536	0.19	1	G			87366922	87366922	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	missense	128	40.74	88	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78387425	78387425	+	Silent	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:78387425G>T	ENST00000278550.7	-	30	5730	c.5268C>A	c.(5266-5268)gtC>gtA	p.V1756V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1756					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGCTGTTCCGGACTTGGTCTG	0.612																																						dbGAP											0													28.0	32.0	31.0					11																	78387425		2124	4241	6365	-	-	-	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5268C>A	11.37:g.78387425G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1756	ENST00000278550.7	37	c.5268	CCDS44688.1	11																																																																																			ODZ4	-	NULL	ENSG00000149256		0.612	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	110	0.00	0	G			78387425	78387425	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	1.000	T
ONECUT1	3175	genome.wustl.edu	37	15	53081031	53081031	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr15:53081031A>G	ENST00000305901.5	-	1	1178	c.1051T>C	c.(1051-1053)Tgg>Cgg	p.W351R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	351					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AGCCACTTCCACATCCTCCGG	0.657																																						dbGAP											0													45.0	47.0	46.0					15																	53081031		2194	4293	6487	-	-	-	SO:0001583	missense	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1051T>C	15.37:g.53081031A>G	ENSP00000302630:p.Trp351Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.W351R	ENST00000305901.5	37	c.1051	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500063	0.64298	.	.	ENSG00000169856	ENST00000305901	T	0.45668	0.89	4.32	4.32	0.51571	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.39898	1.24	0.80722	D	1	P	0.47302	0.893	P	0.56343	0.796	T	0.51957	-0.8639	10	0.72032	D	0.01	-0.5058	12.4865	0.55877	1.0:0.0:0.0:0.0	.	351	Q9UBC0	HNF6_HUMAN	R	351	ENSP00000302630:W351R	ENSP00000302630:W351R	W	-	1	0	ONECUT1	50868323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.044000	0.93805	1.806000	0.52798	0.421000	0.28195	TGG	ONECUT1	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000169856		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	248	0.00	0	A			53081031	53081031	-1	no_errors	ENST00000305901	ensembl	human	known	69_37n	missense	13	62.86	22	SNP	1.000	G
OR5M11	219487	genome.wustl.edu	37	11	56310311	56310311	+	Silent	SNP	G	G	T	rs148809611	byFrequency	TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:56310311G>T	ENST00000528616.2	-	1	446	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGGCCAAGCAGATGCAAACTC	0.507																																						dbGAP											0													49.0	52.0	51.0					11																	56310311		2159	4273	6432	-	-	-	SO:0001819	synonymous_variant	0			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.423C>A	11.37:g.56310311G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL5|B2RNL7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I141	ENST00000528616.2	37	c.423	CCDS53629.1	11																																																																																			OR5M11	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255223		0.507	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	74	0.00	0	G	NM_001005245		56310311	56310311	-1	no_errors	ENST00000528616	ensembl	human	known	69_37n	silent	207	15.85	39	SNP	0.008	T
OR5M11	219487	genome.wustl.edu	37	11	56310459	56310459	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:56310459G>T	ENST00000528616.2	-	1	298	c.275C>A	c.(274-276)tCc>tAc	p.S92Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACCAGCAAAGGAAATGGTCTT	0.433																																						dbGAP											0													97.0	98.0	98.0					11																	56310459		2165	4279	6444	-	-	-	SO:0001583	missense	0			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.275C>A	11.37:g.56310459G>T	ENSP00000432417:p.Ser92Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL5|B2RNL7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S92Y	ENST00000528616.2	37	c.275	CCDS53629.1	11	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120420	0.56613	.	.	ENSG00000255223	ENST00000528616	T	0.00745	5.75	5.1	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06554	0.0168	H	0.96015	3.755	0.29139	N	0.879108	D	0.71674	0.998	D	0.67548	0.952	T	0.03673	-1.1014	9	0.87932	D	0	.	10.0258	0.42070	0.0761:0.1378:0.786:0.0	.	92	Q96RB7	OR5MB_HUMAN	Y	92	ENSP00000432417:S92Y	ENSP00000432417:S92Y	S	-	2	0	OR5M11	56067035	0.734000	0.28142	0.997000	0.53966	0.865000	0.49528	2.926000	0.48892	0.759000	0.33084	-0.152000	0.13540	TCC	OR5M11	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000255223		0.433	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	129	0.00	0	G	NM_001005245		56310459	56310459	-1	no_errors	ENST00000528616	ensembl	human	known	69_37n	missense	357	13.77	57	SNP	1.000	T
PGBD1	84547	genome.wustl.edu	37	6	28269872	28269872	+	Silent	SNP	G	G	A	rs535637657		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:28269872G>A	ENST00000405948.2	+	7	2661	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	PGBD1_ENST00000259883.3_Silent_p.S747S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	747						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S747S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATTATTTCGAAATACAGGG	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20405	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											103.0	98.0	100.0					6																	28269872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2241G>A	6.37:g.28269872G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.S747	ENST00000405948.2	37	c.2241	CCDS4648.1	6																																																																																			PGBD1	-	NULL	ENSG00000137338		0.383	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	104	0.00	0	G			28269872	28269872	+1	no_errors	ENST00000259883	ensembl	human	known	69_37n	silent	23	45.24	19	SNP	0.089	A
PIGR	5284	genome.wustl.edu	37	1	207104865	207104865	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr1:207104865T>C	ENST00000356495.4	-	10	2359	c.2176A>G	c.(2176-2178)Aaa>Gaa	p.K726E	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	726					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGGGTTCTTTGGTCTCTGTG	0.488																																						dbGAP											0													227.0	199.0	208.0					1																	207104865		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2176A>G	1.37:g.207104865T>C	ENSP00000348888:p.Lys726Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K726E	ENST00000356495.4	37	c.2176	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	T	1.777	-0.482849	0.04383	.	.	ENSG00000162896	ENST00000356495	T	0.15139	2.45	5.48	-8.12	0.01078	.	1.445100	0.03973	N	0.292000	T	0.04407	0.0121	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38520	-0.9657	10	0.02654	T	1	-27.7338	7.7344	0.28806	0.0:0.3273:0.2856:0.3871	.	726	P01833	PIGR_HUMAN	E	726	ENSP00000348888:K726E	ENSP00000348888:K726E	K	-	1	0	PIGR	205171488	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.114000	0.15520	-1.307000	0.02321	-0.912000	0.02778	AAA	PIGR	-	NULL	ENSG00000162896		0.488	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	479	0.21	1	T	NM_002644		207104865	207104865	-1	no_errors	ENST00000356495	ensembl	human	known	69_37n	missense	96	55.96	122	SNP	0.000	C
PLAC8	51316	genome.wustl.edu	37	4	84015928	84015928	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr4:84015928T>C	ENST00000509973.1	-	3	212	c.89A>G	c.(88-90)gAc>gGc	p.D30G	PLAC8_ENST00000311507.4_Missense_Mutation_p.D87G|PLAC8_ENST00000505406.1_Missense_Mutation_p.D87G|PLAC8_ENST00000411416.2_Missense_Mutation_p.D87G|PLAC8_ENST00000426923.2_Missense_Mutation_p.D87G|PLAC8_ENST00000515389.1_5'UTR			Q9UHV8	PP13_HUMAN	placenta-specific 8	79	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TGCCATATAGTCATCACAAAT	0.358																																						dbGAP											0													99.0	90.0	93.0					4																	84015928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.89A>G	4.37:g.84015928T>C	ENSP00000423459:p.Asp30Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C5HZ15	Missense_Mutation	SNP	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	p.D87G	ENST00000509973.1	37	c.260		4	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914873	0.52546	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000509973;ENST00000505406;ENST00000426923	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	H	0.96547	3.84	0.52099	D	0.999944	D	0.89917	1.0	D	0.97110	1.0	D	0.90212	0.4265	9	0.87932	D	0	-34.0183	12.4432	0.55637	0.0:0.0:0.0:1.0	.	87	Q9NZF1	PLAC8_HUMAN	G	87;87;30;87;87	.	ENSP00000309509:D87G	D	-	2	0	PLAC8	84234952	0.995000	0.38212	0.997000	0.53966	0.406000	0.30931	4.120000	0.57897	1.958000	0.56883	0.533000	0.62120	GAC	PLAC8	-	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	ENSG00000145287		0.358	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	PLAC8	HGNC	protein_coding	OTTHUMT00000363078.1	233	0.00	0	T	NM_016619		84015928	84015928	-1	no_errors	ENST00000311507	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	1.000	C
ROBO2	6092	genome.wustl.edu	37	3	77614243	77614243	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr3:77614243T>A	ENST00000461745.1	+	12	2721	c.1821T>A	c.(1819-1821)agT>agA	p.S607R	ROBO2_ENST00000487694.3_Missense_Mutation_p.S623R|ROBO2_ENST00000332191.8_Missense_Mutation_p.S607R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	607	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGACCCAAGTCCCATGTCAG	0.468																																						dbGAP											0													136.0	135.0	135.0					3																	77614243		1986	4162	6148	-	-	-	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1821T>A	3.37:g.77614243T>A	ENSP00000417164:p.Ser607Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S607R	ENST00000461745.1	37	c.1821	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487049	0.63962	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.70749	-0.51;-0.51;-0.51	6.02	-1.74	0.08056	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000047	D	0.87281	0.6138	H	0.97265	3.97	0.49299	D	0.999778	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88407	0.3019	9	0.87932	D	0	.	11.5634	0.50792	0.0:0.4115:0.0:0.5885	.	623;607;607	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	623;623;627;607;607;328	ENSP00000417335:S623R;ENSP00000417164:S607R;ENSP00000327536:S607R	ENSP00000327536:S607R	S	+	3	2	ROBO2	77696933	0.031000	0.19500	0.581000	0.28614	0.908000	0.53690	-0.607000	0.05648	-0.717000	0.04955	-0.248000	0.11899	AGT	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	147	0.00	0	T	XM_031246		77614243	77614243	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	missense	27	41.30	19	SNP	0.996	A
RP1	6101	genome.wustl.edu	37	8	55540278	55540279	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr8:55540278_55540279insT	ENST00000220676.1	+	4	3984_3985	c.3836_3837insT	c.(3835-3840)acttttfs	p.TF1279fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1279					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCAGTGACACTTTTTTTCCTA	0.416																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3843dupT	8.37:g.55540285_55540285dupT	ENSP00000220676:p.Thr1279fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.P1282fs	ENST00000220676.1	37	c.3836_3837	CCDS6160.1	8																																																																																			RP1	-	NULL	ENSG00000104237		0.416	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	44	0.00	0	-	NM_006269		55540278	55540279	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	frame_shift_ins	30	28.57	12	INS	0.000:0.000	T
SACS	26278	genome.wustl.edu	37	13	23913912	23913912	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr13:23913912C>T	ENST00000382292.3	-	9	4376	c.4103G>A	c.(4102-4104)aGc>aAc	p.S1368N	SACS_ENST00000402364.1_Missense_Mutation_p.S618N|SACS_ENST00000382298.3_Missense_Mutation_p.S1368N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1368					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCTGATTGCTATACAGCCA	0.353																																						dbGAP											0													167.0	155.0	159.0					13																	23913912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4103G>A	13.37:g.23913912C>T	ENSP00000371729:p.Ser1368Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S1368N	ENST00000382292.3	37	c.4103	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609023	0.28623	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94897	-3.55;-3.55;-3.55	6.06	6.06	0.98353	.	0.040834	0.85682	D	0.000000	D	0.90810	0.7114	N	0.21448	0.665	0.36829	D	0.886783	B	0.02656	0.0	B	0.01281	0.0	D	0.86128	0.1573	10	0.36615	T	0.2	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	1368	Q9NZJ4	SACS_HUMAN	N	1368;618;1368	ENSP00000371729:S1368N;ENSP00000385844:S618N;ENSP00000371735:S1368N	ENSP00000371729:S1368N	S	-	2	0	SACS	22811912	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	5.699000	0.68310	2.879000	0.98667	0.650000	0.86243	AGC	SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	322	0.00	0	C	NM_014363		23913912	23913912	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	69	48.12	64	SNP	1.000	T
SBK2	646643	genome.wustl.edu	37	19	56047657	56047657	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr19:56047657G>T	ENST00000413299.1	-	2	42	c.5C>A	c.(4-6)cCc>cAc	p.P2H	SBK2_ENST00000344158.3_Missense_Mutation_p.P2H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	2							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTGTTTGCCGGGCATCTCTGC	0.682																																						dbGAP											0													18.0	21.0	20.0					19																	56047657		1997	4149	6146	-	-	-	SO:0001583	missense	0				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.5C>A	19.37:g.56047657G>T	ENSP00000389015:p.Pro2His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P2H	ENST00000413299.1	37	c.5	CCDS42631.1	19	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205894	0.39003	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.71103	-0.54;-0.54	4.17	3.1	0.35709	.	.	.	.	.	T	0.66107	0.2756	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.54372	0.75	T	0.57213	-0.7850	9	0.87932	D	0	-14.4726	10.1394	0.42725	0.0:0.2045:0.7955:0.0	.	2	P0C263	SBK2_HUMAN	H	2	ENSP00000389015:P2H;ENSP00000345044:P2H	ENSP00000345044:P2H	P	-	2	0	SBK2	60739469	0.990000	0.36364	0.011000	0.14972	0.076000	0.17211	2.786000	0.47790	0.855000	0.35359	0.313000	0.20887	CCC	SBK2	-	NULL	ENSG00000187550		0.682	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBK2	HGNC	protein_coding	OTTHUMT00000341919.1	19	0.00	0	G	NM_001101401		56047657	56047657	-1	no_errors	ENST00000344158	ensembl	human	known	69_37n	missense	4	73.33	11	SNP	0.238	T
SCML1	6322	genome.wustl.edu	37	X	17770041	17770042	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chrX:17770041_17770042delAG	ENST00000380041.3	+	7	1138_1139	c.810_811delAG	c.(808-813)acagatfs	p.D271fs	SCML1_ENST00000380043.3_Frame_Shift_Del_p.D244fs|SCML1_ENST00000380045.3_Frame_Shift_Del_p.D150fs|SCML1_ENST00000398080.1_Frame_Shift_Del_p.D150fs	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	271	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TAAAACAAACAGATCCTCTTGC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.810_811delAG	X.37:g.17770041_17770042delAG	ENSP00000369380:p.Asp271fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FZN6|B2RA08|Q5H968|Q5H969	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D271fs	ENST00000380041.3	37	c.810_811	CCDS35210.1	X																																																																																			SCML1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000047634		0.446	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	121	0.82	1	AG	NM_006746		17770041	17770042	+1	no_errors	ENST00000380041	ensembl	human	known	69_37n	frame_shift_del	18	73.13	49	DEL	0.000:0.999	-
SERPINE2	5270	genome.wustl.edu	37	2	224847402	224847402	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr2:224847402T>C	ENST00000258405.4	-	6	1223	c.981A>G	c.(979-981)atA>atG	p.I327M	SERPINE2_ENST00000409304.1_Missense_Mutation_p.I327M|SERPINE2_ENST00000447280.2_Missense_Mutation_p.I339M|SERPINE2_ENST00000409840.3_Missense_Mutation_p.I327M	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	327					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACATACTTGTTATTTTTGCAA	0.343																																						dbGAP											0													59.0	59.0	59.0					2																	224847402		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.981A>G	2.37:g.224847402T>C	ENSP00000258405:p.Ile327Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.I327M	ENST00000258405.4	37	c.981	CCDS2460.1	2	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261173	0.59431	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	6.02	3.57	0.40892	Serpin domain (3);	0.095484	0.64402	D	0.000001	T	0.81884	0.4917	N	0.13043	0.29	0.48975	D	0.999739	D;D	0.71674	0.998;0.998	D;D	0.72625	0.978;0.978	T	0.75611	-0.3258	10	0.02654	T	1	.	12.9067	0.58156	0.0:0.0:0.3926:0.6074	.	339;327	B4DIF2;P07093	.;GDN_HUMAN	M	327;327;327;339	ENSP00000386412:I327M;ENSP00000258405:I327M;ENSP00000386969:I327M;ENSP00000415786:I339M	ENSP00000258405:I327M	I	-	3	3	SERPINE2	224555646	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.029000	0.30140	0.480000	0.27534	0.533000	0.62120	ATA	SERPINE2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000135919		0.343	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	163	0.00	0	T	NM_006216		224847402	224847402	-1	no_errors	ENST00000258405	ensembl	human	known	69_37n	missense	39	45.07	32	SNP	1.000	C
SHPRH	257218	genome.wustl.edu	37	6	146247363	146247363	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr6:146247363G>A	ENST00000367505.2	-	16	3535	c.3271C>T	c.(3271-3273)Cgt>Tgt	p.R1091C	SHPRH_ENST00000367503.3_Missense_Mutation_p.R1100C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R1100C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1091C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1091					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CGGCCATCACGCAAGGTAGGT	0.373																																						dbGAP											0													115.0	108.0	110.0					6																	146247363		1884	4105	5989	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3271C>T	6.37:g.146247363G>A	ENSP00000356475:p.Arg1091Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.R1100C	ENST00000367505.2	37	c.3298	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952482	0.73787	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.77229	-1.07;-1.08;-1.04;-1.07	5.62	-0.554	0.11811	.	0.000000	0.64402	D	0.000004	D	0.84920	0.5579	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.88285	0.2939	10	0.87932	D	0	-14.7518	17.1918	0.86881	0.0:0.0:0.4276:0.5724	.	290;1091;1100	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	C	1091;1100;1100;1091	ENSP00000356475:R1091C;ENSP00000356473:R1100C;ENSP00000412797:R1100C;ENSP00000275233:R1091C	ENSP00000275233:R1091C	R	-	1	0	SHPRH	146289056	0.992000	0.36948	0.959000	0.39883	0.944000	0.59088	1.193000	0.32162	-0.013000	0.14199	0.585000	0.79938	CGT	SHPRH	-	NULL	ENSG00000146414		0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	50	0.00	0	G	NM_173082		146247363	146247363	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	22	54.17	26	SNP	0.996	A
SLC43A2	124935	genome.wustl.edu	37	17	1486583	1486583	+	Missense_Mutation	SNP	G	G	T	rs145630054		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr17:1486583G>T	ENST00000301335.5	-	11	1353	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	SLC43A2_ENST00000571650.1_Missense_Mutation_p.T426N|SLC43A2_ENST00000412517.3_Missense_Mutation_p.T285N|SLC43A2_ENST00000382147.4_Missense_Mutation_p.T426N	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	422					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CATGGCATTAGTGATCTTCTG	0.617																																						dbGAP											0													116.0	112.0	114.0					17																	1486583		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1265C>A	17.37:g.1486583G>T	ENSP00000301335:p.Thr422Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T426N	ENST00000301335.5	37	c.1277	CCDS11006.1	17	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615813	0.66672	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.35789	1.75;1.75;1.29	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);	0.179933	0.64402	D	0.000014	T	0.54967	0.1891	M	0.80422	2.495	0.53688	D	0.999974	P;P	0.51791	0.568;0.948	B;P	0.51657	0.265;0.676	T	0.50833	-0.8781	10	0.27785	T	0.31	-1.4858	20.1313	0.98000	0.0:0.0:1.0:0.0	.	422;426	Q8N370;Q8N370-3	LAT4_HUMAN;.	N	422;426;285	ENSP00000301335:T422N;ENSP00000371582:T426N;ENSP00000408284:T285N	ENSP00000301335:T422N	T	-	2	0	SLC43A2	1433333	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.507000	0.60434	2.837000	0.97791	0.655000	0.94253	ACT	SLC43A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000167703		0.617	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	HGNC	protein_coding	OTTHUMT00000206717.4	87	0.00	0	G	NM_152346		1486583	1486583	-1	no_errors	ENST00000382147	ensembl	human	known	69_37n	missense	7	73.08	19	SNP	1.000	T
SRCAP	10847	genome.wustl.edu	37	16	30723194	30723197	+	Frame_Shift_Del	DEL	CATT	CATT	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	CATT	CATT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr16:30723194_30723197delCATT	ENST00000262518.4	+	12	1916_1919	c.1531_1534delCATT	c.(1531-1536)cattcafs	p.HS511fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.HS511fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.HS511fs|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	511	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAAGATGAACATTCAGAGGAGGA	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1531_1534delCATT	16.37:g.30723194_30723197delCATT	ENSP00000262518:p.His511fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.H511fs	ENST00000262518.4	37	c.1531_1534	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.505	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	459	0.00	0	CATT	NM_006662		30723194	30723197	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	frame_shift_del	21	43.24	16	DEL	0.051:0.029:0.007:0.723	-
SSPO	23145	genome.wustl.edu	37	7	149481184	149481184	+	RNA	SNP	A	A	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr7:149481184A>G	ENST00000378016.2	+	0	2666							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCGTCGCTATGCCCCTGGC	0.637																																						dbGAP											0													18.0	23.0	22.0					7																	149481184		2005	4133	6138	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149481184A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.637	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		104	0.00	0	A			149481184	149481184	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	32	31.91	15	SNP	0.431	G
SUPT7L	9913	genome.wustl.edu	37	2	27883995	27883996	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr2:27883995_27883996delTC	ENST00000337768.5	-	3	843_844	c.274_275delGA	c.(274-276)gaafs	p.E92fs	SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Frame_Shift_Del_p.E90fs|SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000464789.2_Frame_Shift_Del_p.E90fs|SUPT7L_ENST00000406540.1_Frame_Shift_Del_p.E90fs	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	92					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TTTTACACCTTCTGTCTGCTGC	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.274_275delGA	2.37:g.27883995_27883996delTC	ENSP00000336750:p.Glu92fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3W3|Q6IB21|Q9H2T6	Frame_Shift_Del	DEL	pfam_BTP,smart_BTP	p.E92fs	ENST00000337768.5	37	c.275_274	CCDS42667.1	2																																																																																			SUPT7L	-	NULL	ENSG00000119760		0.505	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	213	0.47	1	TC	NM_014860		27883995	27883996	-1	no_errors	ENST00000337768	ensembl	human	known	69_37n	frame_shift_del	49	39.76	33	DEL	1.000:1.000	-
TCEAL3	85012	genome.wustl.edu	37	X	102864236	102864236	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chrX:102864236G>A	ENST00000372628.1	+	3	602	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	TCEAL3_ENST00000372627.5_Missense_Mutation_p.G82S|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.G82S			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						ACAAGGCGAGGGCAAGCCAGC	0.602																																						dbGAP											0													105.0	94.0	98.0					X																	102864236		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.244G>A	X.37:g.102864236G>A	ENSP00000361711:p.Gly82Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA4	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.G82S	ENST00000372628.1	37	c.244	CCDS14511.1	X	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270989	0.23221	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.26957	1.7;1.7;1.7	4.18	3.3	0.37823	.	0.715308	0.11517	N	0.556120	T	0.18173	0.0436	L	0.34521	1.04	0.26557	N	0.973801	B	0.30763	0.294	B	0.31016	0.123	T	0.18808	-1.0325	10	0.30854	T	0.27	.	6.4013	0.21640	0.1363:0.0:0.8637:0.0	.	82	Q969E4	TCAL3_HUMAN	S	82	ENSP00000361711:G82S;ENSP00000361710:G82S;ENSP00000243286:G82S	ENSP00000243286:G82S	G	+	1	0	TCEAL3	102750892	0.999000	0.42202	0.870000	0.34147	0.187000	0.23431	1.978000	0.40598	1.100000	0.41517	0.538000	0.68166	GGC	TCEAL3	-	pfam_TF_A-like/BEX-like	ENSG00000196507		0.602	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	359	0.00	0	G	NM_032926		102864236	102864236	+1	no_errors	ENST00000243286	ensembl	human	known	69_37n	missense	67	41.23	47	SNP	0.821	A
TH	7054	genome.wustl.edu	37	11	2192959	2192959	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr11:2192959C>G	ENST00000381178.1	-	1	76	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	TH_ENST00000333684.5_Missense_Mutation_p.E20Q|TH_ENST00000381175.1_Missense_Mutation_p.E20Q|TH_ENST00000352909.3_Missense_Mutation_p.E20Q|MIR4686_ENST00000584128.1_RNA	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	20					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGTCCAGCTCAGACACGGCC	0.706																																						dbGAP											0													69.0	61.0	64.0					11																	2192959		2202	4299	6501	-	-	-	SO:0001583	missense	0			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.58G>C	11.37:g.2192959C>G	ENSP00000370571:p.Glu20Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.E20Q	ENST00000381178.1	37	c.58	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	c	25.3	4.628736	0.87560	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99766	-6.69;-6.66;-6.27;-6.09	3.87	3.87	0.44632	Tyrosine hydroxylase, conserved site (1);	0.153274	0.41938	D	0.000799	D	0.99483	0.9816	L	0.36672	1.1	0.47862	D	0.999532	D;D;D;D;D;D	0.89917	1.0;0.997;0.997;0.989;1.0;1.0	D;D;D;P;D;D	0.87578	0.985;0.992;0.992;0.745;0.998;0.997	D	0.97845	1.0271	10	0.87932	D	0	-27.0175	15.2527	0.73561	0.0:1.0:0.0:0.0	.	20;20;20;20;20;20	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	Q	20	ENSP00000370571:E20Q;ENSP00000370567:E20Q;ENSP00000325951:E20Q;ENSP00000328814:E20Q	ENSP00000325831:E20Q	E	-	1	0	TH	2149535	0.993000	0.37304	0.999000	0.59377	0.949000	0.60115	3.139000	0.50577	1.899000	0.54978	0.550000	0.68814	GAG	TH	-	pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like	ENSG00000180176		0.706	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	30	0.00	0	C	NM_000360		2192959	2192959	-1	no_errors	ENST00000381178	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	G
TIMM50	92609	genome.wustl.edu	37	19	39976916	39976916	+	Silent	SNP	G	G	A	rs62120692		TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr19:39976916G>A	ENST00000607714.1	+	7	604	c.582G>A	c.(580-582)acG>acA	p.T194T	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Silent_p.T297T|TIMM50_ENST00000544017.1_Silent_p.T81T			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	194	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATCTTTACGTCAGAGACTG	0.552																																						dbGAP											0													151.0	155.0	153.0					19																	39976916		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.582G>A	19.37:g.39976916G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.T297	ENST00000607714.1	37	c.891		19																																																																																			TIMM50	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	ENSG00000105197		0.552	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	175	0.00	0	G	NM_001001563		39976916	39976916	+1	no_errors	ENST00000314349	ensembl	human	known	69_37n	silent	33	29.79	14	SNP	0.067	A
TMEM115	11070	genome.wustl.edu	37	3	50392897	50392897	+	Silent	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr3:50392897T>C	ENST00000266025.3	-	2	1479	c.933A>G	c.(931-933)gaA>gaG	p.E311E	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	311					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGACTCCTCTTCATCATCAT	0.607																																						dbGAP											0													68.0	65.0	66.0					3																	50392897		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.933A>G	3.37:g.50392897T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2IDB7|O14568|Q6IAY4|Q9UIX3	Silent	SNP	pfam_DUF1751_Mem_euk	p.E311	ENST00000266025.3	37	c.933	CCDS2828.1	3																																																																																			TMEM115	-	NULL	ENSG00000126062		0.607	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	84	0.00	0	T	NM_007024		50392897	50392897	-1	no_errors	ENST00000266025	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.985	C
TOP3B	8940	genome.wustl.edu	37	22	22318572	22318572	+	Silent	SNP	A	A	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr22:22318572A>T	ENST00000398793.2	-	10	1493	c.1059T>A	c.(1057-1059)tcT>tcA	p.S353S	TOP3B_ENST00000413067.2_Silent_p.S82S|TOP3B_ENST00000357179.5_Silent_p.S353S	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	353					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCTGCCGCAGAGAGCCCTTCA	0.632																																						dbGAP											0													139.0	113.0	122.0					22																	22318572		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1059T>A	22.37:g.22318572A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.L148H	ENST00000398793.2	37	c.443	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	A	9.963	1.223288	0.22457	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.05	0.215	0.15253	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.29036	N	0.885383	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	.	1.3926	0.02253	0.3879:0.2643:0.2294:0.1184	.	.	.	.	H	148	.	.	L	-	2	0	TOP3B	20648572	0.101000	0.21875	0.103000	0.21229	0.973000	0.67179	-0.181000	0.09740	-0.185000	0.10550	0.459000	0.35465	CTC	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd	ENSG00000100038		0.632	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	42	0.00	0	A	NM_003935		22318572	22318572	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000457270	ensembl	human	putative	69_37n	missense	3	94.23	49	SNP	0.032	T
TP53	7157	genome.wustl.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	AGATTCTCTTCCTCTGTGCGC	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"""	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M							95.0	81.0	86.0					17																	7577082		2203	4300	6503	-	-	-	SO:0001583	missense	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.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	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.E286K	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	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	388	0.00	0	C	NM_000546		7577082	7577082	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	10	70.59	24	SNP	1.000	T
TUBA1A	7846	genome.wustl.edu	37	12	49580453	49580453	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr12:49580453G>A	ENST00000295766.5	-	2	646	c.167C>T	c.(166-168)aCg>aTg	p.T56M	TUBA1A_ENST00000546918.1_Missense_Mutation_p.T56M|TUBA1A_ENST00000301071.7_Missense_Mutation_p.T56M|TUBA1A_ENST00000550767.1_Missense_Mutation_p.T21M	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	56					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T56M(1)		stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	GCCAGCCCCCGTCTCACTGAA	0.557																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	dbGAP											1	Substitution - Missense(1)	stomach(1)											173.0	154.0	161.0					12																	49580453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.167C>T	12.37:g.49580453G>A	ENSP00000439020:p.Thr56Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.T56M	ENST00000295766.5	37	c.167	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530021	0.64860	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000552250;ENST00000295766;ENST00000550767;ENST00000547939;ENST00000546918;ENST00000552924;ENST00000550811	T;T;T;T;T;T;D	0.89810	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-2.57	5.29	5.29	0.74685	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.92459	3.31	0.58432	D	0.999998	B	0.28584	0.216	B	0.41666	0.363	D	0.93892	0.7180	10	0.87932	D	0	.	18.0931	0.89480	0.0:0.0:1.0:0.0	.	56	Q71U36	TBA1A_HUMAN	M	56;56;56;56;21;21;56;21;21	ENSP00000301071:T56M;ENSP00000439020:T56M;ENSP00000446637:T21M;ENSP00000450268:T21M;ENSP00000446613:T56M;ENSP00000448725:T21M;ENSP00000449016:T21M	ENSP00000439020:T56M	T	-	2	0	TUBA1A	47866720	1.000000	0.71417	0.972000	0.41901	0.859000	0.49053	9.630000	0.98420	2.639000	0.89480	0.655000	0.94253	ACG	TUBA1A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin	ENSG00000167552		0.557	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	HGNC	protein_coding	OTTHUMT00000404547.2	647	0.00	0	G	NM_006009		49580453	49580453	-1	no_errors	ENST00000301071	ensembl	human	known	69_37n	missense	40	54.02	47	SNP	1.000	A
UMODL1	89766	genome.wustl.edu	37	21	43543099	43543099	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr21:43543099G>C	ENST00000408910.2	+	17	2986	c.2986G>C	c.(2986-2988)Gag>Cag	p.E996Q	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.E1052Q|UMODL1_ENST00000400424.2_Missense_Mutation_p.E924Q|UMODL1_ENST00000408989.2_Missense_Mutation_p.E1124Q	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	996	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGTGAGATCGAGAAGGTGGT	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	dbGAP											0													77.0	82.0	80.0					21																	43543099		2144	4253	6397	-	-	-	SO:0001583	missense	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2986G>C	21.37:g.43543099G>C	ENSP00000386147:p.Glu996Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.E1124Q	ENST00000408910.2	37	c.3370	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964969	0.53507	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	3.13	3.13	0.36017	Zona pellucida sperm-binding protein (3);	0.000000	0.43416	D	0.000568	D	0.88455	0.6441	M	0.63428	1.95	0.37766	D	0.92651	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.964	D	0.89418	0.3708	9	.	.	.	-21.716	13.6342	0.62213	0.0:0.0:1.0:0.0	.	1124;996	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	Q	1052;924;1124;996	ENSP00000383279:E1052Q;ENSP00000383276:E924Q;ENSP00000386126:E1124Q;ENSP00000386147:E996Q	.	E	+	1	0	UMODL1	42416168	0.997000	0.39634	0.985000	0.45067	0.734000	0.41952	2.853000	0.48317	2.060000	0.61445	0.313000	0.20887	GAG	UMODL1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000177398		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	162	0.00	0	G			43543099	43543099	+1	no_errors	ENST00000408989	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.992	C
VPS18	57617	genome.wustl.edu	37	15	41193091	41193091	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr15:41193091delG	ENST00000220509.5	+	4	2414	c.2075delG	c.(2074-2076)cggfs	p.R692fs	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	692					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCCCCCACCGGGTGCATTAC	0.622																																						dbGAP											0													63.0	62.0	63.0					15																	41193091		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2075delG	15.37:g.41193091delG	ENSP00000220509:p.Arg692fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCG0|Q96DI3|Q9H268	Frame_Shift_Del	DEL	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.V693fs	ENST00000220509.5	37	c.2075	CCDS10069.1	15																																																																																			VPS18	-	pfam_Clathrin_H-chain/VPS_repeat	ENSG00000104142		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	87	0.00	0	G			41193091	41193091	+1	no_errors	ENST00000220509	ensembl	human	known	69_37n	frame_shift_del	20	27.59	8	DEL	0.971	-
VWF	7450	genome.wustl.edu	37	12	6122772	6122772	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr12:6122772T>C	ENST00000261405.5	-	32	5749	c.5495A>G	c.(5494-5496)gAt>gGt	p.D1832G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1832	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGGCTGCATCGTAGCGATC	0.537																																						dbGAP											0													92.0	85.0	87.0					12																	6122772		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5495A>G	12.37:g.6122772T>C	ENSP00000261405:p.Asp1832Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.D1832G	ENST00000261405.5	37	c.5495	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	14.16	2.452510	0.43531	.	.	ENSG00000110799	ENST00000261405	T	0.81415	-1.49	5.21	4.06	0.47325	von Willebrand factor, type A (3);	0.304643	0.23508	N	0.047436	D	0.86640	0.5981	M	0.89478	3.035	0.80722	D	1	P	0.45715	0.865	P	0.50590	0.645	D	0.86816	0.2001	10	0.72032	D	0.01	.	9.9955	0.41896	0.0:0.0807:0.0:0.9193	.	1832	P04275	VWF_HUMAN	G	1832	ENSP00000261405:D1832G	ENSP00000261405:D1832G	D	-	2	0	VWF	5993033	1.000000	0.71417	0.032000	0.17829	0.072000	0.16883	4.727000	0.61993	0.822000	0.34565	0.528000	0.53228	GAT	VWF	-	pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110799		0.537	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	289	0.00	0	T	NM_000552		6122772	6122772	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	missense	25	47.92	23	SNP	0.913	C
ZC3H13	23091	genome.wustl.edu	37	13	46549603	46549604	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E2-A1LS-01A-12D-A159-09	TCGA-E2-A1LS-11A-32W-A16L-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	40087f80-85f6-4cc4-95c9-0639153dd3f4	a8f9516d-822f-4888-b66b-f42bb8e6a814	g.chr13:46549603_46549604delCT	ENST00000242848.4	-	12	2630_2631	c.2282_2283delAG	c.(2281-2283)gagfs	p.E761fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.E761fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	761	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R758fs*104(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cccgttctcgctctctctccct	0.525																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2282_2283delAG	13.37:g.46549609_46549610delCT	ENSP00000242848:p.Glu761fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.E761fs	ENST00000242848.4	37	c.2283_2282		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.525	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	838	0.24	2	CT	NM_015070		46549603	46549604	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	frame_shift_del	184	24.59	60	DEL	0.882:0.999	-
